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BABYSHIELD
TMS FACT
SHEET
As per ACMG Guidelines
(American College of Medical Genetics)
0
BABYSHIELD TMS FACT SHEET
3. Citrullinemia ........................................................................... 38
What is citrullinemia?.................................................................................... 38
What causes citrullinemia? ............................................................................ 39
If citrullinemia is not treated, what problems occur? .......................................... 40
What is the treatment for citrullinemia? ........................................................... 42
What happens when citrullinemia is treated? .................................................... 44
What causes the ASAS enzyme to be absent or not working correctly? ................. 45
How is citrullinemia inherited? ....................................................................... 45
Is genetic testing available? ........................................................................... 46
What other testing is available? ...................................................................... 46
Can you test during pregnancy?...................................................................... 46
Can other members of the family have citrullinemia or be carriers?...................... 46
Can other family members be tested? .............................................................. 47
Where can Confirmatory Testing be done for this condition? .............................. 47
How many people have citrullinemia?.............................................................. 48
Does citrullinemia happen more frequently in a certain ethnic group? .................. 48
Does citrullinemia go by any other names? ....................................................... 48
Where can I find more information?................................................................. 48
4. Homocystinuria ....................................................................... 50
What is homocystinuria? ............................................................................... 50
What causes homocystinuria? ........................................................................ 51
If homocystinuria is not treated, what problems occur? ...................................... 52
What is the treatment for homocystinuria? ....................................................... 53
What happens when homocystinuria is treated?................................................ 55
What causes the CBS enzyme to be absent or not working correctly? ................... 56
How is homocystinuria inherited? ................................................................... 56
Is genetic testing available? ........................................................................... 56
What other testing is available? ...................................................................... 57
Can you test during pregnancy?...................................................................... 57
Can other members of the family have homocystinuria or be carriers?.................. 58
Can other family members be tested? .............................................................. 58
Where can Confirmatory Testing be done for this condition? .............................. 58
How many people have homocystinuria?.......................................................... 59
Does homocystinuria happen more often in a certain ethnic group? ..................... 59
Does homocystinuria go by any other names?................................................... 59
Where can I find more information?................................................................. 59
6. Phenylketonuria ...................................................................... 70
What is PKU? ............................................................................................... 71
What causes PKU? ........................................................................................ 71
If PKU is not treated, what problems occur?...................................................... 72
What is the treatment for PKU? ....................................................................... 72
What happens when PKU is treated? ............................................................... 75
What causes the PAH enzyme to be absent or not working correctly? ................... 76
How is PKU inherited? ................................................................................... 76
Is genetic testing available? ........................................................................... 77
What other testing is available? ...................................................................... 77
Can you test during pregnancy?...................................................................... 77
Can other members of the family have PKU or be carriers? ................................. 77
Can other family members be tested? .............................................................. 78
Where can Confirmatory Testing be done for this condition? .............................. 78
How many people have PKU? ......................................................................... 78
Does PKU happen more frequently in a certain ethnic group?.............................. 78
Does PKU go by any other names? .................................................................. 79
Where can I find more information?................................................................. 79
Does TFP deficiency happen more often in a certain ethnic group? .....................197
Does TFP deficiency go by any other names?...................................................197
Where can I find more information?................................................................197
Can other members of the family have HMG lyase deficiency or be carriers? ........247
Can other family members be tested? .............................................................248
Where can Confirmatory Testing be done for this condition? .............................248
What is the cost of the confirmatory test? ........................................................249
How many people have HMG lyase deficiency? ................................................249
Does HMG lyase deficiency happen more frequently in a certain ethnic group? ....249
Does HMG lyase deficiency go by any other names? .........................................249
Where can I find more information?................................................................249
A
Can other members of the
rginase Deficiency
family have arginase
deficiency or be carriers?
Can other family members
Acronym: ARG 1 deficiency
be tested?
What is arginase Where can Confirmatory
deficiency? Testing be done for this
What causes arginase condition?
deficiency? What is the cost of the
If arginase deficiency is not confirmatory test?
treated, what problems How many people have
occur? arginase deficiency?
What is the treatment for Does arginase deficiency
arginase deficiency? happen more often in a
What happens when certain ethnic group?
arginase deficiency is Does arginase deficiency go
treated? by any other names?
What causes the arginase Where can I find more
enzyme to be absent or not information?
working correctly?
This fact sheet contains general
How is arginase deficiency
information about arginase deficiency.
inherited?
Every child is different and some of
Is genetic testing available?
these facts may not apply to your child
What other testing is
specifically. Certain treatments may be
available?
recommended for some children but
Can you test during
not others. All children with arginase
pregnancy?
deficiency should be followed by a
metabolic doctor in addition to their
primary doctor.
4. Call your doctor at the start of any Even with treatment, some children
illness: still have effects from high blood levels
Illness or infection can sometimes lead of arginine and ammonia. This can
to high arginine and ammonia levels. In result permanent learning problems,
order to prevent problems, call your mental retardation or spasticity.
doctor right away when your child has
What causes the arginase enzyme to
any of the following:
be absent or not working correctly?
loss of appetite
Genes tell the body to make various
low energy or excessive sleepiness
enzymes. People with arginase
vomiting
deficiency have a pair of genes that do
fever
not work correctly. Because of the
infection or illness
changes in this pair of genes, the
behavior or personality changes
arginase enzyme either does not work
difficulty walking or balance
properly or is not made at all.
problems
Parents of children with arginase there is a 25% chance for the child to
deficiency rarely have the condition have two working genes.
themselves. Instead, each parent has a
Genetic counseling is available to
single non-working gene for arginase
families who have children with this
deficiency. They are called carriers.
condition. Genetic counselors can
Carriers do not have the condition
answer your questions about how
because the other gene of this pair is
arginase deficiency is inherited,
choices during future pregnancies, and
how to test other family members. Ask
your doctor about a referral to a genetic
counselor.
newborn screening results are not RPT House, Plot No. 6, Sector 24,
Argininemia
ARG1 deficiency
Hyperargininemia
Genetic Alliance
http://www.geneticalliance.org
A
Where can Confirmatory Testing
rgininosuccinic
How is ASAL deficiency these facts may not apply to your child
What causes the ASAL enzyme to recommended for some children but
Can other family members be amino acid disorders. People with this
poor appetite
excess sleepiness or lack of
energy
If ASAL deficiency is not treated, irritability
what problems occur?
vomiting
Normally, the body changes ammonia
into a substance called urea. Urea is If not treated, high ammonia levels can
Other effects of ASAL deficiency can Episodes of high blood ammonia often
include: happen:
poor growth after long periods of going
enlarged liver without food
delays in learning or mental during illness or infection
retardation after high-protein meals
Without treatment, many babies die In children, some of the first symptoms
within the first few weeks of life.
of high blood ammonia are:
ASAL deficiency in childhood poor appetite
In this milder form, symptoms start intense headache
later in infancy or childhood. Some vomiting
common symptoms in children who are extreme sleepiness or lack of
not treated are: energy
slurred speech
poor growth
poor coordination and balance
dry, brittle hair
problems
hyperactivity
behavior problems If not treated, children with high blood
learning disabilities or mental ammonia levels can develop:
retardation breathing problems
avoidance of meat and other swelling of the brain
high protein foods seizures
enlarged liver coma, sometimes leading to
small head size death
episodes of excess ammonia in
Some people have very mild symptoms
the blood
and are only found to be affected after a
brother or sister is diagnosed.
will decide whether your child needs During episodes of high blood
this formula. Some states offer help ammonia, children need to be treated in
with payment, or require private the hospital. Medications to remove
insurance to pay for the formula and ammonia are often given by IV.
other special medical foods. Sometimes dialysis is needed to
Your childs exact food plan will remove ammonia from the blood.
depend on many things such as his or
3. Blood tests
her age, weight, and general health.
Your child will have regular blood tests
Your dietician will fine-tune your
to measure amino acid and ammonia
childs diet over time. Any diet
levels. Your childs diet and medication
changes should be made under the
may need to be adjusted based on
guidance of a dietician familiar with
blood test results.
ASAL deficiency.
ASAL deficiency, neither of these When both parents are carriers, there
genes works correctly. These children is a 25% chance in each pregnancy for
inherit one non-working gene for the the child to have ASAL deficiency.
condition from each parent. There is a 50% chance for the child to
be a carrier, just like the parents. And,
Parents of children with ASAL
there is a 25% chance for the child to
deficiency rarely have the condition
have two working genes.
themselves. Instead, each parent has a
Genetic counseling is available to
families who have children with ASAL
deficiency. Genetic counselors can
answer your questions about how the
condition is inherited, choices during
future pregnancies, and how to test
other family members. Ask your doctor
about a referral to a genetic counselor.
not sufficient to rule out the condition (GC/MS) using urine sample or by
in a newborn baby. In this case, special Argininosuccinate lyase enzyme
diagnostic testing should be done in assay done on cultured fibroblasts for
addition to newborn screening. confirmatory test.
DNA testing would not be helpful for 350 (+ 100 for fibroblast culturing).
counselor can answer your questions This is a rare condition. About one in
every 70,000 babies in the United
about carrier testing.
States is born with ASAL deficiency.
Where can Confirmatory Testing be
done for this condition? Does ASAL deficiency happen more
frequently in a certain ethnic group?
The confirmatory test for the
diagnosis is done by Gas
Chromatography Mass Spectrometry
ASAL deficiency does not happen more Urea Cycle Disorders Consortium
Registry
often in any specific race, ethnic group,
http://rarediseasesnetwork.epi.usf.edu/
geographical area or country. ucdc/
Genetic Alliance
http://www.geneticalliance.org
C
How many people have
itrullinemia
citrullinemia?
Does citrullinemia happen more
often in a certain ethnic group?
Disorder name: Citrullinemia Does citrullinemia go by any other
Acronym: ASAS names?
Where can I find more
What is citrullinemia?
information?
What causes citrullinemia?
If citrullinemia is not treated, This fact sheet contains general
what problems occur? information about citrullinemia. Every
What is the treatment for child is different and some of these
citrullinemia? facts may not apply to your child
What happens when citrullinemia specifically. Certain treatments may be
is treated? recommended for some children but
What causes the ASAS enzyme to not others. All children with this
be absent or not working condition should be followed by a
correctly? metabolic doctor in addition to their
How is citrullinemia inherited? primary doctor.
Is genetic testing available?
What is citrullinemia?
What other testing is available?
Citrullinemia is one type of amino acid
Can you test during pregnancy?
disorder. People with this condition
Can other members of the family
cannot remove ammonia from the
have citrullinemia or be carriers?
body. Ammonia is a harmful
Can other family members be
substance. It is made when protein and
tested?
its building blocks, amino acids, are
Where can Confirmatory Testing
broken down for use by the body.
be done for this condition?
What is the cost of the
confirmatory test?
Amino acid disorders (AAs) are a group When ASAS is not working, an amino
of rare inherited conditions. They are acid called citrulline builds up in the
caused by enzymes that do not work blood. Ammonia and other harmful
Classic citrullinemia
Infants seem healthy at birth but
quickly develop symptoms. Within a
few days of life, babies will have high
levels of ammonia in their blood. Some
of the first symptoms of high blood
ammonia are:
poor appetite
If citrullinemia is not treated, what
extreme sleepiness or lack of
problems occur?
energy
Normally, the body changes ammonia
irritability
into a substance called urea. Urea is
vomiting
then safely removed in the urine. If
ammonia is not changed to urea, high
If not treated, high ammonia levels
levels build up in the blood. This can
cause:
be very harmful. If ammonia levels stay muscle weakness
high for too long, severe brain damage
decreased or increased muscle
can occur. tone
breathing problems
amounts. 2. Medication
Do not remove all protein from the diet. There are certain medications that can
Your child still needs a certain amount help the body get rid of ammonia.
of protein for normal growth and These are taken by mouth or by tube
development. Any changes in the diet feeding to prevent high ammonia
should be made under the guidance of levels. Your doctor will decide whether
a dietician. your child needs these medications,
which ones, and how much to use.
Medical foods and formula
There are medical foods such as During episodes of high ammonia,
special low-protein flours, pastas, and children need to be treated in the
rice that are made especially for people hospital. Medications to remove
with amino acid disorders. ammonia are often given by IV.
Dialysis is sometimes needed to
Your baby may need to drink a special
remove ammonia from the blood.
medical formula that contains the
correct amount of amino acids and An amino acid called arginine is often
nutrients. Your metabolic doctor and given by mouth to help prevent
dietician will decide whether your child ammonia build-up. Your doctor will tell
needs this treatment. Some states offer you whether your child needs arginine
help with payment, or require private and how much to use. Do not use any
insurance to pay for the formula and supplements or medications without
other special medical foods. checking with your doctor.
4. Call your doctor at the start of any The ASAS enzyme that causes
illness: citrullinemia is located in the liver.
For some babies and children with Because of this, some children with
citrullinemia, even minor illness can citrullinemia have had liver
cause high ammonia levels. In order to transplantation surgery (removal of
prevent problems, call your doctor right their liver and replacement with a
away when your child has any of the donor liver) to treat their citrullinemia
following: symptoms.
With prompt and lifelong treatment, one non-working gene for the condition
children with citrullinemia can often
live healthy lives with typical growth
and learning. Early treatment can help
prevent high ammonia levels.
When both parents are carriers, there citrullinemia. Talk to your metabolic
is a 25% chance in each pregnancy for doctor or genetic counselor if you have
the child to have citrullinemia. There is questions about this type of testing.
a 50% chance for the child to be a
carrier, just like the parents. And, there
is a 25% chance for the child to have
two working genes.
Can you test during pregnancy?
Genetic counseling is available to If both gene changes have been found
families who have children with this in your child, DNA testing can be done
condition. Genetic counselors can during future pregnancies. The sample
answer your questions about how it is needed for this test is obtained by
inherited, choices during future either CVS or amniocentesis.
pregnancies, and how to test other
family members. Ask your doctor about If DNA testing would not be helpful, an
pair of genes that cause the condition. many parents choose to wait until birth
to have the baby tested. A genetic
DNA testing is not necessary to counselor can talk to you about your
diagnose your child. It can be helpful choices and answer questions about
for carrier or prenatal testing, prenatal testing or testing after birth.
discussed below.
Can other members of the family
What other testing is available? have citrullinemia or be carriers?
Special tests on blood, urine or skin
samples can be done to confirm Having citrullinemia
The brothers and sisters of a baby with rule out the condition in a newborn
citrullinemia have a chance of being baby. In this case, special diagnostic
affected, even if they havent had testing should be done in addition to
symptoms. Finding out whether other newborn screening.
children in the family have the
Can other family members be tested?
condition is important because early
treatment can prevent serious health Diagnostic testing
problems. Talk to your metabolic
Brothers and sisters of a child with
doctor or genetic counselor about
citrullinemia can be tested using blood,
testing your other children.
urine, or skin samples.
Citrullinemia carriers
Brothers and sisters who do not have
citrullinemia still have a chance to be
carriers like their parents. Except in
Carrier testing
special cases, carrier testing should
only be done in people over 18 years of If both gene changes have been found
age. in your child, other family members
can have genetic testing to see if they
Each of the parents brothers and
are carriers.
sisters has a 50% chance to be a
carrier. It is important for other family If DNA testing would not be helpful,
members to be told that they could be other methods of carrier testing may be
carriers. There is a chance they are available. Your metabolic doctor or
also at risk to have children with genetic counselor can answer your
citrullinemia. questions about carrier testing.
All states offer newborn screening for Where can Confirmatory Testing be
citrullinemia. However, when both done for this condition?
parents are carriers, newborn
screening results are not sufficient to The confirmatory test for the
Late-onset citrullinemia
Genetic Alliance
http://www.geneticalliance.org
H
What is the cost of the
omocystinuria
confirmatory test?
How many people have
homocystinuria?
Disorder name: Homocystinuria Does homocystinuria happen
more often in a certain ethnic
What is homocystinuria?
group?
What causes homocystinuria?
Does homocystinuria go by any
If homocystinuria is not treated,
other names?
what problems occur?
Where can I find more
What is the treatment for
information?
homocystinuria?
What happens when This fact sheet contains general
homocystinuria is treated? information about homocystinuria.
What causes the CBS enzyme to Every child is different and some of
be absent or not working these facts may not apply to your child
correctly? specifically. Certain treatments may be
How is homocystinuria inherited? recommended for some children but
Is genetic testing available? not others. Children with this condition
What other testing is available? should be followed by a metabolic
Can you test during pregnancy? doctor in addition to their primary care
Can other members of the family provider.
have homocystinuria or be
carriers? What is homocystinuria?
be done for this condition? called methionine from the food they
eat.
Amino acid disorders (AAs) are a group properly. This enzymes job is to break
poor growth
Muscle weakness, especially in the
problems gaining weight
legs, is a problem for some children.
delays in crawling, walking, and
talking Heart and blood vessels
behavior and emotional If not treated, homocystinuria can
problems cause blot clots resulting in heart
disease or stroke. In fact, stroke and
heart disease are the main causes of The following are treatments often
early death in people with untreated recommended for children with
homocystinuria. homocystinuria:
Everyone has a pair of genes that make Genetic counseling is available to families
the CBS enzyme. In children with who have children with this condition.
Homocystinuria is confirmed by
special blood and urine tests. People
with this condition usually have high
levels of homocystine and methionine
in their blood. Their urine usually has
high levels of homocystine.
Can other members of the family All states offer newborn screening for
have homocystinuria or be carriers? homocystinuria. However, when both
parents are carriers, newborn
Having homocystinuria
screening results are not sufficient to
If they are healthy and growing
rule out the condition in a newborn
normally, older brothers and sisters of
baby. In this case, special diagnostic
a baby with homocystinuria are
testing should be done in addition to
unlikely to be affected. However,
newborn screening.
finding out whether other children in
the family have the condition may be Can other family members be tested?
important. Early treatment could
Diagnostic testing
prevent serious health problems. Ask
Brothers and sisters can be tested
your metabolic doctor whether your
using blood, urine or skin samples.
other children should be tested.
Carrier testing
Homocystinuria carriers If both gene changes have been found
Brothers and sisters who do not have in your child, other family members
the condition still have a chance to be
can have DNA testing to see if they are
carriers like their parents. Except in
carriers.
special cases, carrier testing should
only be done in people over 18 years of If DNA testing would not be helpful,
age. other methods of carrier testing may be
available. Your metabolic doctor or
Each of the parents brothers and
genetic counselor can answer your
sisters has a 50% chance to be a questions about carrier testing.
carrier. It is important for other family
members to be told that they could be Where can Confirmatory Testing be
carriers. There is a chance they are done for this condition?
also at risk to have children with
homocystinuria.
The confirmatory testing for the people with Irish ancestry. About one
disorder is done by estimation of Blood in every 50,000 babies in these groups
Homocysteine level. has homocystinuria.
M
What is the cost of the
aple Syrup
confirmatory test?
Urine Disease How many people have MSUD?
Does MSUD happen more often in
a certain ethnic group?
Does MSUD go by any other
Disorder name: Maple Syrup Urine
names?
Disease
Where can I find more
Acronym: MSUD Type 1A
information?
What is MSUD?
This fact sheet has information about
What causes MSUD?
MSUD. Every child is different and
If MSUD is not treated, what
some of these facts may not apply to
problems occur?
your child specifically. Certain
What is the treatment for MSUD?
treatments may be recommended for
What happens when MSUD is
some children but not others. All
treated?
children with MSUD should be
What causes the BCKAD enzymes
followed by a metabolic doctor in
to be absent or not working
addition to their primary doctor.
correctly?
How is MSUD inherited? What is MSUD?
Is genetic testing available? MSUD stands for maple syrup urine
What other testing is available? disease. It is named for the sweet
Can you test during pregnancy? maple syrup smell of the urine in
Can other members of the family untreated babies. This condition is one
have MSUD or be carriers? type of amino acid disorder. People
Can other family members be with MSUD have problems breaking
tested? down certain amino acids found in
Where can Confirmatory Testing protein.
be done for this condition?
amino acid disorder. See the fact The job of this enzyme group is to
sheets for each specific amino acid break down three different amino acids
rice that are made especially for people 4. Tracking BCAA levels
with MSUD. Some states offer help Your child will have regular blood tests
with payment, or require private to measure amino acid levels. The diet
insurance coverage for medical formula and formula may need to be adjusted
and other special medical foods. based on blood test results.
Your metabolic doctor and dietician 5. Call your doctor at the start of any
will decide on the best food plan for illness
your child. The exact plan will depend For children with MSUD, even minor
on many things such as your childs illness can cause a metabolic crisis. In
age, weight, and general health. Your order to prevent problems, call your
dietician will fine-tune the diet over doctor right away when your child has
time. Any diet changes should be made any of the following:
under the guidance of a dietician.
- Poor appetite
Lifelong treatment with the MSUD diet - low energy or extreme
is necessary. Children are at risk for sleepiness
episodes of metabolic crisis when they - vomiting
dont follow the diet. - an infection or illness
- a fever
3. Supplements
- behavior or personality
Children with a rare form of MSUD,
changes
called thiamine-responsive MSUD,
- difficulty walking or balance
can often be helped by thiamine
problems
supplements. Some children with
classic MSUD may also benefit from Children with MSUD need to eat more
thiamine. Ask your doctor whether carbohydrates and drink more fluids
your child should take thiamine during any illness even if theyre not
supplements. Do not use any hungry or they could have a
supplements without checking with metabolic crisis. Children who are sick
your doctor. may not want to eat. If they cant eat, or
if they show signs of a metabolic crisis, be discussed very thoroughly with your
they may need to be treated in the childs physicians.
hospital.
What happens when MSUD is
Ask your metabolic doctor if you treated?
should carry a special travel letter with With prompt and lifelong treatment,
medical instructions for your childs children with MSUD often have healthy
care. lives with typical growth and
development. Early treatment can help
6. Liver transplantation
prevent brain damage and mental
Liver transplant surgery is an optional
retardation.
treatment for people with MSUD. The
BCKAD enzyme that causes MSUD is However, children with MSUD are at
located in the liver. Because of this, increased risk to have attention deficit
some children with MSUD have had hyperactivity disorder (ADHD), anxiety
liver transplantation surgery (removal and depression even if they have had a
of their liver and replacement with a liver transplant. The reasons for this
donor liver) to treat their MSUD are not well understood at this time.
symptoms.
Even with treatment, some children
This major surgical procedure is still develop swelling of the brain or
associated with risks, and individuals have episodes of metabolic crisis.
who have had a liver transplant must Children who have repeated metabolic
take medication for the rest of their crises may develop permanent brain
lives to prevent their body from damage. This can cause lifelong
rejecting the donor liver. However, learning problems, mental retardation
successful liver transplantation cures or spasticity.
people of their MSUD symptoms.
What causes the BCKAD enzymes to
Many factors must be considered be absent or not working correctly?
before surgery and this option should
Genes tell the body to make various When both parents are carriers, there
enzymes. People with MSUD have a is a 25% chance in each pregnancy for
pair of genes that do not work the child to have MSUD. There is a
correctly. Because of these gene 50% chance for the child to be a carrier,
changes, the BCKAD enzymes do not just like the parents. And, there is a
work properly or are not made at all. 25% chance for the child to have two
working genes.
How is MSUD inherited?
MSUD is inherited in an autosomal Genetic counseling is available to
recessive manner. It affects both boys families who have children with
and girls equally. MSUD. Genetic counselors can answer
your questions about how the condition
In children with MSUD, a pair of genes
is inherited, choices during future
needed to make the BCKAD enzymes is
pregnancies, and how to test other
not working correctly. These children
family members. Ask your doctor about
inherit one non-working gene for
a referral to a genetic counselor.
MSUD from each parent.
Is genetic testing available?
Parents of children with MSUD rarely
Genetic testing for MSUD can be done
have the condition themselves. Instead,
on a blood sample. Genetic testing,
each parent has a single non-working
also called DNA testing, looks for
gene for MSUD. They are called
changes in the pair of genes that
carriers. Carriers do not have MSUD
causes MSUD.
because the other gene of this pair is
working correctly.
the condition. If you have questions Can other family members be tested?
about testing your other children, talk
Diagnostic testing
with your metabolic doctor or genetic
If there is concern about whether they
counselor.
have the condition, diagnostic testing
MSUD Carriers can be done on brothers or sisters. Talk
Brothers and sister who do not have to your metabolic doctor if you have
MSUD still have a chance to be carriers questions about testing for MSUD.
like their parents. Except in special Carrier testing
cases, carrier testing should only be If both gene changes have been found
done on people over 18 years of age. in your child, other family members
can have DNA testing to see if they are
Each of the parents brothers and
carriers.
sisters has a 50% chance to be a
carrier. It is important for other family If DNA testing is not helpful, other
members to be told that they could be methods of carrier testing may be
carriers. There is a small chance they available. If you have questions about
are also at risk to have children with carrier testing, ask your genetic
MSUD. counselor or metabolic doctor.
All states offer newborn screening for Where can Confirmatory Testing be
MSUD. However, when both parents done for this condition?
are carriers, newborn screening results The confirmatory test for the
are not sufficient to rule out the diagnosis of the disorder is done by
condition in a newborn baby. In this Gas Chromatography Mass
case, special diagnostic testing should Spectrometry (GC/MS) using urine
be done in addition to newborn sample.
screening. It is very important that this
testing be done shortly ideally at 24
hours of age.
Center
P
Does PKU happen more often in a
henylketonuria
children with non-PKU HPA do not There is also another form of non-PKU
need treatment. HPA that is treated with a medication
called BH4 (tetrahydrobiopterin). This
condition is rare (less than 2% of
Amino Acid Disorders:
cases). Blood and urine tests can be
done to determine whether your child
Amino acid disorders (AAs) are a
has this form of non-PKU hyperphe.
group of rare inherited conditions.
They are caused by enzymes that do
This fact sheet contains information
not work properly.
about classic PKU only. Therefore, the
details below are relevant only to
Protein is made up of smaller building
babies who have been confirmed to
blocks called amino acids. A number
have classic PKU. It does not contain
of different enzymes are needed to
information on non-PKU HPA or other
process these amino acids for use by
variants.
the body. Because of missing or non-
working enzymes, people with amino
acid disorders cannot process certain What is PKU?
along with other toxic substances, one type of amino acid disorder. People
then build up in the body and cause with PKU have problems breaking
disorders. They can also vary from In order for the body to use protein
person to person with the same amino from the food we eat, it is broken down
acid disorder. See the fact sheets for into smaller parts called amino acids.
each specific amino acid disorder. Special enzymes then make changes to
the amino acids so the body can use
Amino acid disorders are inherited in them.
an autosomal recessive manner and
affect
71both males and females.
NEWBORN SCREENING- SCREEN EARLY TREAT EARLY
PKU occurs when an enzyme, called Babies with PKU seem perfectly
phenylalanine hydroxylase (PAH), is normal at birth. The first effects are
either missing or not working properly. usually seen around 6 months of age.
The job of this enzyme is to chemically Untreated infants may be late in
change the amino acid phenylalanine learning to sit, crawl and stand. They
(Phe pronounced fee) into other may pay less attention to things around
substances. When a child with PKU them. Without treatment, a child with
eats food containing Phe, it builds up PKU will have mental retardation.
in the blood and causes problems. Phe
Some of the effects of untreated PKU
is found in almost every food, except
include:
pure fat and sugar.
mental retardation
behavior problems
hyperactivity
restlessness or irritability
seizures
a skin condition called eczema
a musty or mousy body odor
fair hair and skin
long as you get help from your best and how much to use. Some states
dietician. Babies who are breastfed offer help with payment, or require
usually need the medical formula as private insurance coverage for the
well. formula and other special medical
foods.
Most children need to eat a special diet
made up of very low-protein foods, 2. Low-Phe food plan
special medical foods, and the special The low-Phe food plan is made up of
formula. You must start the low-Phe foods that are very low in Phe. This
diet as soon as you know your child means your child must avoid or strictly
has PKU. Your dietician will create a limit the following foods:
food plan that contains the right
milk and all dairy products
amount of protein, nutrients, and
including cheese, yogurt, ice
energy to keep your child healthy. The
cream
diet should be continued throughout
regular formula
life.
meat and poultry
The following are treatments often fish
advised for children with PKU: eggs
nuts and peanut butter
1. Medical formula
dried beans
Even though they need less Phe,
regular flour
children with PKU still need a certain
amount of protein. The medical formula It is very important that your child
gives babies and children with PKU the avoid the sugar substitute aspartame
nutrients and protein they need while (sold under the brand names Equal,
helping keep their Phe levels within a Nutrasweet Sweetmate,
safe range. Canderal). Aspartame contains high
amounts of Phe. It can quickly raise the
Your metabolic doctor and dietician
blood levels of Phe in people with PKU.
will tell you what type of formula is
Your child must not have any diet
BH4 pills. Most children with mild Women with PKU who want to have
PKU are helped by BH4 pills. children need to have very low blood
Phe levels before they get pregnant.
Your doctor can do blood tests to
During pregnancy, they need to:
determine whether your child responds
to BH4 supplements. Do not take this stay on the low-Phe diet
supplement unless advised by your visit their PKU clinic on a
metabolic doctor. regular basis
have their blood Phe levels
5. Pregnancy in women with PKU
checked often
(Maternal PKU)
Women with PKU who are not on the What happens when PKU is treated?
low-Phe diet when they become Children with PKU who start treatment
pregnant have a high chance of having soon after birth and keep their Phe
babies with birth defects and mental levels within the suggested range
retardation. usually have normal growth and
intelligence. Some children, even when
Women who are not on the diet usually
treated, have problems with school
have high levels of Phe in their blood.
work and may need extra help.
The extra Phe gets to the fetus and
causes problems with brain and body If treatment is not started until several
growth. Babies of untreated mothers weeks after birth, delays or learning
may have the following: problems may occur. The level of delay
varies from child to child.
small brains
mental retardation Children who start treatment after 6
birth defects of the heart months of age often have mental
low birth weight retardation. Treatment is still
important, even if started late, because
This condition is called maternal PKU
it can help control behavior and mood
syndrome.
problems and can prevent further other gene of this pair is working
damage to the brain. correctly.
What causes the PAH enzyme to be When both parents are carriers, there
absent or not working correctly? is a 25% chance in each pregnancy for
Genes tell the body to make various the child to have PKU. There is a 50%
enzymes. People with PKU have a pair chance for the child to be a carrier, just
of genes that do not work correctly. like the parents. And, there is a 25%
Because of the changes in this pair of chance for the child to have two
genes, the PAH enzyme either does not working genes.
work properly or is not made at all.
choices during future pregnancies, and If both gene changes have been found
how to test other family members. Ask in your child with PKU, DNA testing
your doctor about a referral to a genetic can be done during future pregnancies.
counselor. The sample needed for this test is
obtained by either CVS or
Is genetic testing available?
amniocentesis.
hyperphenylalanemia mild
type (non PKU-HPA)
biopterin deficiency
T
What is the cost of the
yrosinemia, type
confirmatory test?
1 How many people have
tyrosinemia 1?
Does tyrosinemia 1 happen more
often in a certain ethnic group?
Disorder name: Tyrosinemia, type 1
Does tyrosinemia 1 go by any
Acronym: FAH deficiency
other names?
Where can I find more
What is tyrosinemia 1?
information?
What causes tyrosinemia 1?
If tyrosinemia 1 is not treated,
This fact sheet contains general
what problems occur?
information about tyrosinemia 1. Every
What is the treatment for
child is different and some of these
tyrosinemia 1?
facts may not apply to your child
What happens when tyrosinemia
specifically. Certain treatments may be
1 is treated?
recommended for some children but
What causes the FAH enzyme to
not others. All children with this
be absent or not working
condition should be followed by a
correctly?
metabolic doctor in addition to their
How is tyrosinemia 1 inherited?
primary doctor.
Is genetic testing available?
What other testing is available? What is tyrosinemia 1?
Can you test during pregnancy?
This condition is one type of amino
Can other members of the family
acid disorder. People with tyrosinemia
have tyrosinemia 1 or be carriers?
1 have problems breaking down an
Can other family members be
amino acid called tyrosine from the
tested?
food they eat. If not treated, the
Where can Confirmatory Testing
condition causes severe liver disease
be done for this condition?
and other serious health problems.
enlarged liver
yellowing of the skin
tendency to bleed and bruise
easily
Some babies also have episodes that can prevent liver failure in most
include: children.
pain or weakness, especially in
Kidneys: Serious kidney
the legs
problems can occur in untreated
breathing problems
children. When the kidneys are
rapid heartbeat
not working properly, episodes
seizures
of vomiting, weakness and fever
coma, sometimes leading to
can happen. Rickets, a bone
death
thinning condition, may happen
What is the treatment for tyrosinemia Nitisinone will increase the level of
1? tyrosine in your childs blood. So, a
Your babys doctor will work with a low-tyrosine diet is a very important
metabolic doctor and dietician to care part of treatment.
for your child. Lifelong treatment is
Vitamin D is sometimes used to treat
usually needed to prevent liver and
children who have rickets.
kidney problems.
1. Medication
3. Low-tyrosine / phenylalanine diet:
A medication called nitisinone
The diet is made up of foods that are
(Orfadin ), also known as NTBC, is
very low in tyrosine and phenylalanine.
used to prevent liver and kidney This means your child will need to limit
damage. It also stops the neurologic
foods such as cows milk and regular
crises. The medication lessens the risk
formula. He or she will need to avoid
for liver cancer. Your child should start
meat, eggs and cheese. Regular flour,
taking Nitisinone as soon as possible. dried beans, nuts and peanut butter
Your doctor will need to write a
prescription for this medication.
Many vegetables and fruits have only These tests help your doctor and
small amounts of phenylalanine and dietician figure out whether any
tyrosine and can be eaten regularly in changes to the medication or diet are
carefully measured amounts. needed.
There are other medical foods such as Some experts suggest that children
special flours, pastas, and rice that are with tyrosinemia 1 have a CT or MRI
made especially for people with scan of their liver once a year to check
tyrosinemia 1. Some states offer help for scarring or cancer.
with payment, or require private
5. Liver transplantation
insurance coverage for formula and
Before nitisinone was available, liver
other special medical foods.
transplantation was one of the main
Your metabolic doctor and dietician treatments for tyrosinemia 1. Now,
will decide on the best food plan for nitisinone can prevent or reverse many
your child. The exact plan will depend of the liver problems and decreases the
on many things such as your childs risk of developing liver cancer. For
age, weight, general health, and how most children, nitisinone will delay,
well the medication is working. Your and hopefully prevent, the need for
dietician will fine-tune your childs diet liver transplant.
over time.
Liver transplantation is still an option
4. Blood, urine and other tests for those children that show signs of
Your child will have regular blood and liver cancer or liver failure. If you have
urine tests to check: questions, talk to your metabolic doctor
or doctor about the benefits and risks
amino acid levels
of transplantation.
the amount of succinylacetone
What happens when tyrosinemia 1 is Everyone has a pair of genes that make
treated? the FAH enzyme. In children with
When treatment is started early, severe tyrosinemia 1, neither of these genes
liver, kidney, and neurologic symptoms works correctly. These children inherit
can be prevented. Children who are one non-working gene for the condition
treated usually have normal growth from each parent.
and intelligence.
Parents of children with tyrosinemia 1
If treatment is not started right away, rarely have the condition themselves.
children may have some liver or kidney Instead, each parent has a single non-
damage. Rickets may already be working gene for the condition. They
present and need to be treated. Delays are called carriers. Carriers do not have
in growth and development may also the condition because the other gene of
be present. The effects of delayed this pair is working correctly.
treatment vary from child to child.
When both parents are carriers, there
What causes the FAH enzyme to be is a 25% chance in each pregnancy for
absent or not working correctly? the child to have tyrosinemia 1. There
Genes tell the body to make various is a 50% chance for the child to be a
enzymes. People with tyrosinemia 1 carrier, just like the parents. And, there
have a pair of genes that do not work is a 25% chance for the child to have
correctly. Because of the changes in two working genes.
this pair of genes, the FAH enzyme
either does not work properly or is not
made at all.
Can other members of the family Some states do not provide newborn
have tyrosinemia 1 or be carriers? screening for tyrosinemia 1. However,
expanded newborn screening through
Having tyrosinemia 1
private labs is available for babies born
If they are healthy and developing
in states that do not screen for this
normally, older brothers and sisters of
condition.
a baby with tyrosinemia are unlikely to
be affected. However, finding out When both parents are carriers,
whether other children in the family newborn screening results are not
have this condition may be important. sufficient to rule out the condition in a
Early treatment can prevent serious newborn baby. In this case, special
health problems. Ask your metabolic diagnostic testing should be done in
doctor whether your other children addition to newborn screening.
should be tested.
Can other family members be tested?
Tyrosinemia 1 carriers
Diagnostic testing
Brothers and sisters who do not have If there is a concern, diagnostic testing
the condition still have a chance to be can be done on brothers and sisters.
carriers like their parents. Except in Talk to your metabolic doctor if you
special cases, carrier testing should have questions about testing other
only be done in people over 18 years of family members.
age.
Carrier testing
Each of the parents brothers and If both gene changes have been found
sisters has a 50% chance to be a in your child, other family members
carrier. It is important for other family can have DNA testing to see if they are
members to be told that they could be carriers.
carriers. There is a small chance they
Where can Confirmatory Testing be
are also at risk to have children with
done for this condition?
this condition.
Assay of FAH enzyme activity can be population is born with the condition. It
done into skin fibroblast. may also occur more frequently in
people from Norway or Finland.
The confirmatory test for the diagnosis
of the disorder is done by Gas Does tyrosinemia 1 go by any other
Chromatography Mass Spectrometry names?
(GC/MS) using urine sample.
Tyrosinemia 1 is sometimes also
Center called:
PreventiNe Lifecare Pvt. Ltd.
Hereditary Infantile tyrosinemia
RPT House, Plot No. 6, Sector 24,
Hepatorenal tyrosinemia
Turbhe, Navi Mumbai 400705
Fumarylacetoacetase deficiency
Ph: 022-61980000/11
Fumarylacetoacetate hydrolase
How many people have tyrosinemia deficiency
1? FAH deficiency
Hereditary tyrosinemia type 1
About one in every 100,000 babies in
Tyrosinosis
the United States is born with this
condition. Two other forms of this condition
tyrosinemia type II and tyrosinemia
Does tyrosinemia 1 happen more
type III have different symptoms and
frequently in a certain ethnic group?
are not discussed in this fact sheet.
This condition occurs in all ethnic
groups around the world. It is found Where can I find more information?
more often in people of French-
About Tyrosinemia: New Parents'
Canadian background, especially in the
Guide
Saguenay Lac Saint-Jean region of
http://depts.washington.edu/tyros/abou
Quebec. About 1 in 20 French-
ttyr.htm
Canadians in this region are carriers.
About one in every 2000 babies in this
Genetic Alliance
http://www.geneticalliance.org
C
What is the cost of the
arnitine
confirmatory test?
transporter How many people have CTD?
Does CTD happen more often in a
deficiency certain ethnic group?
Does CTD go by any other
Disorder Name: Carnitine transporter
names?
deficiency
Where can I find more
Acronym: CTD
information?
What is CTD?
This fact sheet contains general
What causes CTD?
information about CTD. Every child is
If CTD is not treated, what
different and some of this information
problems occur?
may not apply to your child
What is the treatment for CTD?
specifically. Not all is known about
What happens when CTD is
CTD. At present, there is no standard
treated?
treatment plan. Certain treatments may
What causes the CT enzyme to be
be recommended for some children but
absent or not working correctly?
not others. Children with CTD should
How is CTD inherited?
be followed by a metabolic doctor in
Is genetic testing available?
addition to their primary doctor.
What other testing is available?
Can you test during pregnancy? What is CTD?
Can other members of the family CTD stands for Carnitine transporter
have CTD or be carriers? deficiency. It is one type of fatty acid
Can other family members be oxidation disorder. People with CTD
tested? have problems using fat as energy for
Where can Confirmatory Testing the body.
be done for this condition?
What causes CTD?
CTD occurs when an enzyme, called fat in food. It also helps us use fat
carnitine transporter (CT), is either already stored in the body.
missing or not working properly. This
enzymes job is to carry a substance
called carnitine into our cells. Carnitine
helps the body make energy from the
Children with CTD appear perfectly Certain treatments may be advised for
normal until symptoms begin, usually some children but not others. When
between the ages of one and seven. necessary, treatment is usually needed
Some of the effects of childhood CTD throughout life. The following are
are: treatments often recommended for
children with CTD:
enlarged heart
muscle weakness 1. L-carnitine
if left untreated, risk of heart The main treatment for CTD is lifelong
failure and death use of L-carnitine. This is a safe and
natural substance that helps body cells
Children with this type of CTD do not
make energy. It also helps the body get
have episodes of hypoglycemia or
rid of harmful wastes. L-carnitine can
metabolic crises. Their intelligence is
reverse the heart problems and muscle
not affected.
weakness that happen in children with
CTD.
Some children with CTD deficiency
never have symptoms and are only
Your doctor will decide whether or not
found to be affected after a brother or
your child needs L-carnitine. Unless
sister is diagnosed. Many infants
you are advised otherwise, use only L-
diagnosed based on newborn
carnitine prescribed by your doctor. Do
screening results never develop
not use L-carnitine without checking
symptoms of CTD.
with your doctor.
suggested that infants be fed every four child needs to have any changes in his
to six hours. Some babies need to eat or her diet.
even more frequently than this. It is
4. If your baby has CTD, call your
important that infants be fed during the
doctor at the start of any illness
night. They may need to be woken up
Always call your health care provider
to eat if they do not wake up on their
when your baby has any of the
own. Your metabolic doctor and
following:
dietician will give you an appropriate
feeding plan for your infant. Your
poor appetite
doctor will also give you a sick day
low energy or excessive
plan tailored to your childs needs for
sleepiness
you to follow during illnesses or other vomiting
times when your child will not eat.
diarrhea
an infection
Your metabolic doctor will continue to
a fever
advise you on how often your child
persistent muscle pain or
should eat as he or she gets older.
weakness
When they are well, many teens and
adults with CTD can go without food
Babies with CTD need to eat extra
for up to 12 hours without problems. starchy food and drink more fluids
The other treatments usually need to during any illness even if they may
be continued throughout life. not feel hungry or they could have a
metabolic crisis. Children who are sick
3. Diet
often dont want to eat. If they wont or
Sometimes, in addition to L-carnitine
cant eat, they may need to be treated
treatment, a low-fat, high carbohydrate
in the hospital to prevent serious health
food plan is recommended. Any diet
problems.
changes should be made under the
guidance of a dietician familiar with
Ask your metabolic doctor if you
CTD. Ask your doctor whether your should carry a special travel letter with
When both parents are carriers, there can be helpful for carrier testing or
is a 25% chance in each pregnancy for prenatal diagnosis, discussed below.
the child to have CTD. There is a 50% Talk with your metabolic doctor or
chance for the child to be a carrier, just genetic counselor if you have questions
like the parents. And, there is a 25% about genetic testing for CTD.
chance for the child to have two
What other testing is available?
working genes.
CTD can be confirmed by a carnitine
Genetic counseling is available to uptake test on a skin sample. Talk to
families who have children with CTD. your doctor or genetic counselor if you
Genetic counselors can answer your have questions about genetic testing
questions about how CTD is inherited, for CTD.
choices during future pregnancies, and
Can you test during pregnancy?
how to test other family members. Ask
If both gene changes have been found
your doctor about a referral to a genetic
in the child with CTD, DNA testing can
counselor.
be done during future pregnancies. The
Is genetic testing available? sample needed for this test is obtained
Genetic testing for CTD can be done on by either CVS or amniocentesis.
a blood sample. Genetic testing, also
If DNA testing would not be helpful,
called DNA testing, looks for changes
testing during pregnancy can be
in the pair of genes that cause CTD. In
attempted by performing special tests
some affected children, both gene
on fetal cells. Again, the sample needed
changes can be found. However, in
for these tests is obtained by either
other children, neither or only one of
CVS or amniocentesis
the two gene changes can be found,
even though we know they are
Parents may either choose to have
present.
testing during pregnancy or wait until
birth to have the baby tested. A genetic
DNA testing is not necessary to
counselor can talk to you about your
diagnose your child. When available, it
choices and answer other questions Mothers diagnosed with CTD because
you may have about prenatal testing or their infant had a positive newborn
testing your baby after birth. screen for CTD often have no
symptoms of CTD. However, it is
Can other members of the family
important that they talk to their doctor
have CTD or be carriers?
about treatment to prevent serious
health problems.
Having CTD
The brothers and sisters of a baby with
CTD carriers
CTD have a small chance of being
Brothers and sisters who do not have
affected, even if they havent had
CTD still have a chance to be carriers
symptoms. Finding out whether any
like their parents. Except in special
other children in the family have CTD
cases, carrier testing should only be
is important because early treatment
done in people over 18 years of age.
may prevent serious health problems.
Talk to your doctor or genetic Each of the parents brothers and
counselor about testing your other sisters has a 50% chance to be a CTD
children for CTD. carrier. It is important for other family
members to be told that they could be
Occasionally, a mother is diagnosed
carriers. There is a very small chance
with CTD when her infant has a
they are also at risk to have children
positive newborn screening test for
with CTD.
CTD. The babys low carnitine level at
birth is because of the mothers low Almost all states offer newborn
carnitine levels. This is a condition screening for CTD. However, expanded
called secondary carnitine deficiency. newborn screening through private
Infants with secondary carnitine labs is available for babies born in
deficiency are treated with L-carnitine states that do not screen for this
until their carnitine levels are normal. condition.
They do not need lifelong treatment.
C
Can other family members be
arnitine
tested?
Acylcarnitine Where can Confirmatory Testing
be done for this condition?
Translocase What is the cost of the
confirmatory test?
Deficiency
How many people have CAT
deficiency?
Disorder name: Carnitine
Does CAT deficiency happen more
acylcarnitine translocase deficiency
often in a certain ethnic group?
Acronym: CAT
Does CAT deficiency go by any
What is CAT deficiency? other names?
What causes CAT deficiency? Where can I find more
If CAT deficiency is not treated, information?
what problems occur?
This fact sheet has general information
What is the treatment for CAT
about CAT deficiency. Every child is
deficiency?
different and some of this information
What happens when CAT
may not apply to your child
deficiency is treated?
specifically. Not all is known about
What causes the CAT enzyme to
CAT deficiency and, at present, there is
be absent or not working
no standard treatment plan. There may
correctly?
be treatments recommended for some
How is CAT deficiency inherited?
children but not others. Children with
Is there genetic testing available?
CAT deficiency should be followed by
What other testing is available?
a metabolic doctor in addition to their
Can you test during pregnancy?
primary doctor.
Can other members of the family
have CAT deficiency or be
What is CAT deficiency?
carriers?
Fatty Acid Oxidation Disorders: have problems breaking down fat into
energy for the body.
Fatty acid oxidation disorders
(FAODs) are a group of rare inherited
What causes CAT deficiency?
conditions. They are caused by
CAT deficiency occurs when an
enzymes that do not work properly.
enzyme, called "carnitine acylcarnitine
A number of enzymes are needed to translocase" (CAT), is either missing or
break down fats in the body (a not working properly. This enzyme's
process called fatty acid oxidation). job is to help change certain fats in the
Problems with any of these enzymes food we eat into energy. It also helps to
can cause a fatty acid oxidation break down fat already stored in the
disorder. People with FAODs cannot body.
properly break down fat from either
the food they eat or from fat stored in
their bodies.
Your metabolic doctor will continue to Ask your doctor whether your child
advise you on how often your child needs to have any changes in his or her
should eat as he or she gets older. diet.
When they are well, many teens and
2. L-carnitine and MCT oil
adults with CAT deficiency can go
Some children may be helped by taking
without food for up to 12 hours without
L-carnitine. This is a safe and natural
problems. The other treatments usually
substance that helps body cells make
need to be continued throughout life.
energy. It also helps the body get rid of
2.Diet harmful wastes.
Sometimes a low-fat, high
Your doctor will decide whether or not
carbohydrate diet is advised.
your child needs L-carnitine. Unless
Carbohydrates give the body many
you are advised otherwise, use only L-
types of sugar that can be used as
carnitine prescribed by your doctor. Do
energy. In fact, for children needing
not use L-carnitine without checking
this treatment, most food in the diet
with your doctor.
should be carbohydrates (bread, pasta,
fruit, vegetables, etc.) and protein (lean Medium Chain Triglyceride oil (MCT
meat and low-fat dairy food). Any diet
oil) is sometimes used as part of the
changes should be made under the
food plan for people with CAT
guidance of a dietician.
deficiency. This special oil has medium
chain fatty acids that people with CAT
People with CAT deficiency cannot use
deficiency can use in small amounts for
particular building blocks of fat called
energy. Your metabolic doctor or
"long chain fatty acids". A dietician can
dietician can guide you in how to use
help you create a food plan low in these
this supplement. You will need to get a
fats. Any diet changes should be made
prescription from your doctor to get with medical instructions for your
MCT oil. childs care.
3. Call your doctor at the start of any What happens when CAT deficiency
illness is treated?
Prompt and careful treatment may help
Always call your health care provider
prevent or control symptoms in
when your child has any of the
children with CAT deficiency.
following:
However, some children continue to
have metabolic crises and other health
poor appetite
low energy or excessive problems despite treatment. Even with
treatment, there is a risk of death,
sleepiness
especially in newborns with symptoms.
vomiting
diarrhea
What causes the CAT enzyme to be
an infection
absent or not working correctly?
a fever
Genes tell the body to make various
persistent muscle pain or
enzymes. People with CAT deficiency
weakness
have a pair of genes that do not work
correctly. Because of the changes in
Children with CAT deficiency need to
eat extra starchy food and drink more this pair of genes, the CAT enzyme
either does not work properly or is not
fluids during any illness - even if they
made at all.
may not feel hungry - or they could
develop a metabolic crisis. Children
How is CAT deficiency inherited?
who are sick often dont want to eat. If
CAT deficiency is inherited in an
they wont or cant eat, children with
autosomal recessive manner. It affects
CAT deficiency may need to be treated
both boys and girls equally.
in the hospital to prevent a metabolic
crisis. Ask your metabolic doctor if Everyone has a pair of genes that make
you should carry a special travel letter the CAT enzyme. In children with CAT
cause CAT deficiency. In some affected for these tests is obtained by either
children, both gene changes can be CVS or amniocentesis.
found. However, in other children,
Parents may either choose to have
neither or only one of the two gene
testing during pregnancy or wait until
changes can be found, even though we
birth. A genetic counselor can talk to
know they are present.
you about your choices and answer
DNA testing is not necessary to other questions about prenatal testing
diagnose your child. It can be helpful or testing your baby after birth.
for carrier testing or prenatal diagnosis,
Can other members of the family
discussed below.
have CAT deficiency or be carriers?
What other testing is available?
CAT deficiency
CAT deficiency can also be confirmed
Brothers and sisters of an affected
by a special enzyme test on a skin
baby have a chance of having CAT
sample. Talk to your doctor or genetic
deficiency, even if they haven't had
counselor if you have questions about
symptoms. Finding out whether other
testing for CAT deficiency.
children in the family have CAT
Can you test during pregnancy? deficiency is important because early
If both gene changes have been found treatment may prevent serious health
in the child with CAT deficiency, DNA problems. Talk to your doctor or
testing can be done during future genetic counselor about testing your
pregnancies. The sample needed for other children.
this test is obtained by either CVS or
CAT deficiency carriers
amniocentesis.
Brothers and sisters who do not have
If DNA testing would not be helpful, CAT deficiency still have a chance to
testing during pregnancy can be be carriers like their parents. Except in
attempted by performing special tests special cases, carrier testing should
on fetal cells. Again, the sample needed
When both parents are carriers, Diagnostic testing for CAT deficiency
newborn screening results are not Brothers and sisters of an affected
sufficient to rule out CAT deficiency in child can be tested for CAT deficiency
a newborn baby. In this case, special using either DNA testing or a special
diagnostic testing should be done in enzyme test.
addition to newborn screening.
Carrier testing
During pregnancy, women carrying If both gene changes have been found
fetuses with CAT deficiency may be at in the child with CAT deficiency, other
increased risk to develop serious family members can have DNA testing
medical problems. Some women to see if they are carriers.
carrying fetuses with Fatty Acid
Oxidation Disorders have developed:
If DNA testing would not be helpful, Does CAT deficiency go by any other
other methods of carrier testing may be names?
available. Your metabolic doctor or
CAT deficiency is also known as:
genetic counselor can answer your
questions about carrier testing.
carnitine acylcarnitine carrier
(CAC)
Where can Confirmatory Testing be
CACT deficiency
done for this condition?
The confirmatory test for the diagnosis
Where can I find more information?
is done by Liquid Chromatography
Mass Spectrometry (LC/MS) using Fatty Oxidation Disorders (FOD)
blood sample. Family Support Group
http://www.fodsupport.org
Center
PreventiNe Lifecare Pvt. Ltd. Organic Acidemia Association
RPT House, Plot No. 6, Sector 24, http://www.oaanews.org
Turbhe, Navi Mumbai 400705
United Mitochondrial Disease
Ph: 022-61980000/11
Foundation
How many people have CAT http://www.umdf.org
deficiency?
Children Living with Inherited
CAT deficiency is very rare. The actual
Metabolic Disorders (CLIMB)
incidence is unknown.
http://www.climb.org.uk
Does CAT deficiency happen more
Genetic Alliance
often in a certain ethnic group?
http://www.geneticalliance.org
No, CAT deficiency does not happen
more often in any specific race, ethnic
group, geographical area or country.
C
Can other family members be
arnitine
tested?
Palmitoyl Where can Confirmatory Testing
be done for this condition?
Transferase What is the cost of the
confirmatory test?
Deficiency, type 1A
How many people have CPT-1A
deficiency?
Disorder Name: Carnitine palmitoyl
Does CPT-1A deficiency happen
transferase deficiency, type 1A
more often in a certain ethnic
Acronym: CPT-1A
group?
What is CPT-1A deficiency? Does CPT-1A deficiency go by any
What causes CPT-1A deficiency? other names?
If CPT-1A deficiency is not Where can I find more
treated, what problems occur? information?
What is the treatment for CPT-1A
This fact sheet contains general
deficiency?
information about CPT-1A deficiency.
What happens when CPT-1A
Every child is different and some of this
deficiency is treated?
information may not apply to your child
What causes the CPT-1A enzyme
specifically. Not all is known about
to be absent or not working
CPT-1A deficiency and, at present,
correctly?
there is no standard treatment plan.
How is CPT-1A deficiency
Certain treatments may be
inherited?
recommended for some children but
Is there genetic testing available?
not others. Children with CPT-1A
What other testing is available?
deficiency should be followed by a
Can you test during pregnancy?
metabolic doctor in addition to their
Can other members of the family
primary doctor.
have CPT-1A deficiency or be
carriers?
If a metabolic crisis is not treated, a Babies and children who are not
child with CPT-1A deficiency can treated can have:
develop:
learning problems
breathing problems
delays in walking and other
seizures
motor skills
coma, sometimes leading to
liver, heart, or kidney problems
death
can guide you in how to use this medical instructions for your childs
supplement. You will need to get a care.
prescription from your doctor to get
What happens when CPT-1A
MCT oil.
deficiency is treated?
3. Call your doctor at the start of any With prompt and careful treatment,
illness children with CPT-1A deficiency often
Always call your health care provider live healthy lives with typical growth
right away when your child has any of and development. After 5 years of age,
the following: metabolic crises tend to happen less
often and are not as severe.
poor appetite
low energy or excessive If repeated episodes of metabolic crisis
sleepiness occur, there is a chance for permanent
vomiting learning disabilities or mental
diarrhea retardation.
an infection
What causes the CPT-1A enzyme to
a fever
be absent or not working correctly?
Children with CPT-1A deficiency need Genes tell the body to make various
to eat extra starchy food and drink enzymes. People with SCHADD have a
more fluids than usual when they are pair of genes that do not work
sick even if they may not feel hungry correctly. People with CPT-1A
or they could have a metabolic crisis. deficiency have a pair of genes that do
Children who are sick often dont want not work correctly. Because of the
to eat. If they wont or cant eat, they changes in this pair of genes, the CPT-
may need to be treated in the hospital 1A enzyme either does not work
to prevent serious health problems. properly or is not made at all.
Ask your metabolic doctor if you
How is CPT-1A deficiency inherited?
should carry a special travel letter with
testing, looks for changes in the pair of not work correctly. Because of the
genes that cause the condition. In most changes in this pair of genes, the CPT-
affected children, both gene changes 1A enzyme either does not work
can be found. However, in some properly or is not made at all.
children, neither or only one of the two
If DNA testing would not be helpful,
gene changes can be found, even
testing during pregnancy can be done
though we know they are present.
by an enzyme test on cells from the
DNA testing is not necessary to fetus. The sample needed for this test
diagnose your child. It can be helpful is obtained by either CVS or
for carrier testing or prenatal diagnosis, amniocentesis.
discussed below. Talk with your
Parents may either choose to have
metabolic doctor or genetic counselor if
testing during pregnancy or wait until
you have questions about DNA testing
birth to have the baby tested. A genetic
for CPT-1A.
counselor can talk to you about your
What other testing is available? choices and answer questions about
CPT-1A deficiency can be confirmed by prenatal testing or testing your baby
a special enzyme test on a skin sample. after birth.
Your doctor or genetic counselor can
Can other members of the family
answer your questions about testing
have CPT-1A or be carriers?
for CPT-1A deficiency.
child with CPT-1a deficiency can have also more common among the Native
special tests done on a skin sample. American Inuit people of Canada and
DNA testing may also be done if both Alaska. CPT-1A deficiency is rare in
mutations have been identified in the other ethnic groups around the world.
affected sibling.; The actual incidence is unknown.
Genetic Alliance
http://www.geneticalliance.org
Mito Action
http://www.mitoaction.org
C
Can other family members be
arnitine
tested?
Palmitoyl Where can Confirmatory Testing
be done for this condition?
Transferase What is the cost of the
confirmatory test?
Deficiency, type 2
How many people have CPT-2
deficiency?
Disorder Name: Carnitine palmitoyl
transferase deficiency, type 2 Does CPT-2 deficiency happen
more often in a certain ethnic
Acronym: CPT-2 deficiency
group?
What is CPT-2 deficiency? Does CPT-2 deficiency go by any
What causes CPT-2 deficiency? other names?
If CPT-2 deficiency is not treated, Where can I find more
what problems occur? information?
What is the treatment for CPT-2
deficiency? This fact sheet contains general
What happens when CPT-2 information about CPT-2 deficiency.
Fatty Acid Oxidation Disorders: have problems breaking down fat into
energy for the body.
Fatty acid oxidation disorders
(FAODs) are a group of rare inherited
What causes CPT-2 deficiency?
conditions. They are caused by
CPT-2 deficiency occurs when an
enzymes that do not work properly.
enzyme, called carnitine palmitoyl
transferase type 2 (CPT-2), is either
A number of enzymes are needed to
break down fats in the body (a missing or not working properly. This
process called fatty acid oxidation). enzymes job is to help change certain
Problems with any of these enzymes fats in the food we eat into energy. It
also helps us use fat already stored in
can cause a fatty acid oxidation
the body.
disorder. People with FAODs cannot
properly break down fat from either
the food they eat or from fat stored in
their bodies.
2. It is one type of fatty acid oxidation whenever our bodies run low of their
disorder. People with CPT-2 deficiency main source of energy, a type of sugar
called glucose. Our bodies rely on fat crisis. Some of the first signs of a
when we dont eat for a stretch of time metabolic crisis are:
like when we miss a meal or when we extreme sleepiness
sleep. behavior changes
irritable mood
When the normal enzyme is missing or
poor appetite
not working, the body cannot use fat
for energy, and must rely solely on Other symptoms then follow:
glucose. Although glucose is a good fever
source of energy, there is a limited diarrhea
amount available. Once the glucose vomiting
has been used up, the body tries to use hypoglycemia
fat without success. This leads to low
If a metabolic crisis is not treated, a
blood sugar, called hypoglycemia, and
child with CPT-2 deficiency can
to the build up of harmful substances
develop:
in the blood.
breathing problems
If CPT-2 deficiency is not treated, seizures
what problems occur? coma, sometimes leading to
A small number of babies with CPT-2 death
deficiency show symptoms shortly
CPT-2 deficiency in newborns
after birth. Others dont start showing
Rarely, a baby with CPT-deficiency
the effects until later in infancy. Most
shows symptoms in the newborn
people do not have symptoms until
period. Newborns with symptoms
their teen years or early adulthood.
usually have many episodes of
This is called the classic form of
metabolic crisis. Other health effects in
CPT-2 deficiency.
newborns can be:
Babies and children who show early
enlarged heart with irregular
signs of CPT-2 deficiency have
heartbeat
episodes of illness called metabolic
Certain treatments may be advised for Your metabolic doctor will continue to
some children but not others. When advise you on how often your child
necessary, treatment is usually needed should eat as he or she gets older.
throughout life. The following are When they are well, many teens and
treatments sometimes recommended adults with CPT-2 deficiency can go
for babies and children with CPT-2 without food for up to 12 hours without
deficiency: problems. The other treatments usually
need to be continued throughout life.
1. Avoid going a long time without
food 2.Diet
Infants and young children with CPT-2 Sometimes a low fat, high
deficiency need to eat frequently to carbohydrate food plan is
prevent a metabolic crisis. Your recommended. Carbohydrates give the
metabolic doctor will tell you how often body many types of sugar that can be
used as energy. In fact, for children Some children and adults may be
needing this treatment, most food in helped by taking L-carnitine. This is a
the diet should be carbohydrates safe and natural substance that helps
(bread, pasta, fruit, vegetables, etc.) body cells make energy. It also helps
and protein (lean meat and low-fat the body get rid of harmful wastes.
dairy foods). Any diet changes should Your doctor will decide whether or not
be made under the guidance of an your child needs L-carnitine. Unless
experienced dietician. you are advised otherwise, use only L-
carnitine prescribed by your doctor. Do
Children with CPT-2 deficiency cannot
not use any supplements without
use certain building blocks of fat called
checking with your doctor.
"long chain fatty acids". Your dietician
can help create a food plan low in these 4. Call your doctor at the start of any
fats. Much of the rest of the fat in the illness
diet will likely be in the form of medium Always call your health care provider
chain fatty acids. right away when your child has any of
the following:
Ask your doctor whether your child
needs to have any changes in his or her poor appetite
diet. low energy or excessive
sleepiness
3. MCT oil and L-carnitine
vomiting
Medium Chain Triglyceride oil (MCT
diarrhea
oil) is often used as part of the food
an infection
plan for people with CPT-2 deficiency.
a fever
This special oil has medium chain fatty
persistent muscle pain,
acids that can be used in small
weakness, or reddish-brown
amounts for energy. Your metabolic
color to the urine
doctor or dietician can guide you in
how to use this supplement. Babies and children with CPT-2
deficiency need to eat extra starchy
food and drink more fluids during any drink fluids right away
illness - even if they may not feel eat something starchy or sugary
hungry or they could have a get to a hospital for treatment
metabolic crisis. Children who are sick
To help prevent muscle symptoms:
often dont want to eat. If they wont or
avoid prolonged or heavy
cant eat, they may need to be treated
exercise
in the hospital to prevent a metabolic
keep the body warm
crisis. Ask your metabolic doctor if
eat starchy or sugary food before
you should carry a special travel letter
and during periods of moderate
with medical instructions for your
exercise
childs care.
Genes tell the body to make various of the disease. However in a small
enzymes. People with CPT-2 deficiency number of cases, carriers of CPT-2
have a pair of genes that do not work have been reported with symptoms of
correctly. Because of the changes in the disorder.
this pair of genes, the CPT-2 enzyme
When both parents are carriers, there
either does not work properly or is not
is a 25% chance in each pregnancy for
made at all.
the child to have CPT-2 deficiency.
How is CPT-2 deficiency inherited? There is a 50% chance for the child to
be a carrier, just like the parents. And,
CPT-2 deficiency is inherited in an
there is a 25% chance for the child to
autosomal recessive manner. It affects
inherit two working genes.
both boys and girls equally.
Genetic counseling is available to
Everyone has a pair of genes that make
families who have children with CPT-2
the CPT-2 enzyme. In children with
CPT-2 deficiency, neither of these
genes works correctly. These children
inherit one non-working gene for the
condition from each parent.
being affected, even if they havent had Some states do not offer newborn
symptoms. Finding out whether other screening for CPT-2 deficiency.
children in the family have CPT-2 However, expanded newborn screening
deficiency is important because early through private labs is available for
treatment may prevent serious health babies born in states that do not screen
problems. Talk with your doctor or for this condition.
genetic counselor about testing your
When both parents are carriers,
other children for CPT-2 deficiency.
newborn screening results are not
CPT-2 deficiency carriers sufficient to rule out CPT-2 deficiency
Brothers and sisters who do not have in a newborn baby. In this case, special
CPT-2 deficiency still have a chance to diagnostic testing should be done in
be carriers like their parents. Except in addition to newborn screening.
special cases, carrier testing should
During pregnancy, women carrying
only be done in people over 18 years of
fetuses with CPT-2 deficiency may be
age.
at increased risk to develop serious
Each of the parents brothers and medical problems. Some women
sisters has a 50% chance to be a CPT-2 carrying fetuses with Fatty Acid
deficiency carrier. It is important for Oxidation Disorders have developed:
other family members to be told that
excessive vomiting
they could be carriers. There is a very
abdominal pain
small chance they are also at risk to
high blood pressure
have children with CPT-2 deficiency.
jaundice
Most commonly, carriers of CPT-2
abnormal fat storage in the liver
deficiency do not have any symptoms
severe bleeding
of the disease. However a small
number of carriers of CPT-2 have been
All women with a family history of
reported to have symptoms of the
CPT-2 deficiency should share this
disorder. information with their obstetricians and
other health care providers before and Mass Spectrometry (LC/MS) using
during any future pregnancies. blood sample.
Knowing about these risks allows
Center
better medical care and early treatment
PreventiNe Lifecare Pvt. Ltd.
if needed.
RPT House, Plot No. 6, Sector 24,
Can other family members be tested? Turbhe, Navi Mumbai 400705
Ph: 022-61980000/11
Diagnostic Testing
Brothers and sisters of an affected How many people have CPT-2
child can be tested for CPT-2 deficiency?
deficiency using either a DNA test or a CPT-2 deficiency is rare. The actual
special enzyme test. incidence is unknown.
G
Does GA-2 happen more often in a
lutaric certain ethnic group?
Acronym: GA-2
This fact sheet contains general
What is GA-2? information about GA-2. Every child is
What causes GA-2? different and some of these facts may
If GA-2 is not treated, what not apply to your child specifically.
problems occur? Certain treatments may be
What is the treatment for GA-2? recommended for some children but
What happens when GA-2 is not others. All children with GA-2
treated? should be followed by a metabolic
doctor.
Organic Acid Disorders:
What is GA-2?
Organic acid disorders (OAs) are a
GA-2 stands for glutaric acidemia,
group of rare inherited conditions.
type 2. People with GA-2 have
They are caused by enzymes that do
problems breaking down fat and
not work properly. A number of
protein into energy for the body. GA-2
enzymes are needed to process
has symptoms that are part of two
protein from the food we eat for use by
different groups of disorders: fatty acid
the body. Problems with one or more
oxidation disorders and organic acid
of these enzymes can cause an
disorders.
organic acid disorder.
with treatment, many babies with GA-2 after going too long without
die of severe heart problems within a food
few months. during illness or infection
Some newborns with GA-2 also have Episodes of metabolic crisis can
birth defects. If this is the case, happen for the same reasons.
treatment is usually not helpful. Babies
Other symptoms of GA-2 happen in
with GA-2 and birth defects usually die
some people:
within the first weeks of life.
liver problems
GA-2 in childhood heart problems
The symptoms of GA-2 can be very low levels of carnitine, a
different from person to person. If substance that helps the body
symptoms do not happen in the use fat for energy
newborn period, they may begin involuntary movements
anytime from early childhood through
Some people with GA-2 never have
adulthood.
symptoms and are only found to be
Symptoms in childhood can include: affected after a brother or sister is
nausea diagnosed.
vomiting
What is the treatment for GA-2?
muscle weakness
Your childs primary doctor will work
periods of hypoglycemia
with a metabolic doctor and dietician
full metabolic crisis (described
familiar with GA-2 to provide your
above)
child with medical care.
Hypoglycemia can cause a child to feel
Certain treatments may be advised for
weak, shaky or dizzy with clammy, cold
some children but not others. When
skin. Hypoglycemia can occur:
necessary, treatment is usually needed
after strenuous exercise
throughout life. The following are
after eating too much protein
Your metabolic doctor will continue to Some children and adults with GA-2
advise you on how often your child
are helped by taking daily riboflavin
should eat as he or she gets older.
supplements. Check with your doctor
When they are well, many teens and
to see whether your child should take
adults with GA-2 can go without food riboflavin.
With prompt and careful treatment, non-working gene for the condition
children and adults with GA-2 usually from each parent.
live healthy lives with normal growth
Parents of children with GA-2 rarely
and development.
have the disorder. Instead, each parent
The goal of treatment is to prevent has a single non-working gene for GA-
long-term problems. However, children 2. They are called carriers. Carriers do
who have repeated metabolic crises not have GA-2 deficiency because the
may develop life-long learning other gene of this pair is working
problems. correctly.
What causes the enzyme to be absent When both parents are carriers, there
or not working correctly? is a 25% chance in each pregnancy for
Genes tell the body to make various the child to have GA-2. There is a 50%
enzymes. People with GA-2 have a pair chance for the child to be a carrier, just
of genes that do not work correctly. like the parents. And, there is a 25%
Because of the gene changes, one of chance for the child to have two
the necessary enzymes does not work working genes.
properly or is not made at all.
counselor can talk to you about your carriers. There is a small chance they
choices and answer questions about are also at risk to have children with
prenatal testing or testing your baby GA-2.
after birth.
Some states do not provide newborn
Can other members of the family screening for GA-2. However,
have GA-2 or be carriers? expanded newborn screening through
private labs is available for babies born
Having GA-2
in states that do not screen for this
The brothers and sisters of a baby with
condition.
GA-2 have a chance of being affected,
even if they havent shown symptoms. When both parents are carriers,
Finding out if other children in the newborn screening results are not
family have GA-2 is important because sufficient to rule out GA-2 in a newborn
early treatment may prevent serious baby. In this case, special diagnostic
health problems. Talk to your testing should be done in addition to
metabolic doctor or genetic counselor newborn screening.
about testing your other children for
Can other family members be tested?
GA-2.
Diagnostic testing
GA-2 carriers GA-2 can be confirmed by special tests
Brothers and sisters who do not have using urine, blood, or skin samples.
GA-2 still have a chance to be carriers
Carrier testing
like their parents. Except in special
Carrier testing for GA-2 may be
cases, carrier testing should only be
available. Ask your genetic counselor
done in people over 18 years of age.
or metabolic doctor whether carrier
Each of the parents brothers and testing is possible for your family.
sisters has a 50% chance to be a GA-2
Where can Confirmatory Testing be
carrier. It is important for other family
done for this condition?
members to be told that they could be
The confirmatory test for the diagnosis Does GA-2 happen more often in a
is done by Gas Chromatography Mass certain ethnic group?
Spectrometry (GC/MS) using urine
GA-2 does not happen more often in
sample or by Mutations analysis from
any specific race, ethnic group,
whole blood, skin fibroblast or
geographical area or country.
lymphocytes of patient for 3 different
genes, ETFA, ETFB and ETFDH. Does GA-2 go by any other names?
GA-2 is sometimes also called:
Center
PreventiNe Lifecare Pvt. Ltd. glutaric acidemia-II
RPT House, Plot No. 6, Sector 24, glutaric aciduria-II
Turbhe, Navi Mumbai 400705 multiple acyl-CoA
Ph: 022-61980000/11
dehydrogenase deficiency
1105 AZ Amsterdam
Where can I find more information?
The Netherlands
Ph: +31 20 5662026 / 5393 Fatty Oxidation Disorders (FOD)
E-mail: gmz_enzym@amc.nl Family Support Group
http://www.fodsupport.org
What is the cost of the confirmatory
test? Organic Acidemia Association
http://www.oaanews.org
350 (+ 100 for fibroblast culturing)
Genetic Alliance
http://www.geneticalliance.org/
L
Can other family members be
ong chain 3-
tested?
hydroxyacyl-CoA Where can Confirmatory Testing
be done for this condition?
dehydrogenase What is the cost of the
confirmatory test?
deficiency
How many people have
LCHADD?
Disorder name: Long chain 3-
Does LCHADD happen more often
hydroxyacyl-CoA dehydrogenase
in a certain ethnic group?
deficiency
Does LCHADD go by any other
Acronym: LCHADD
names?
What is LCHADD? Where can I find more
What causes LCHADD? information?
If LCHADD is not treated, what
This fact sheet contains general
problems occur?
information about LCHADD. Every
What is the treatment for
child is different and some of this
LCHADD?
information may not apply to your child
What happens when LCHADD is
specifically. Certain treatments may be
treated?
recommended for some children but
What causes the LCHAD enzyme
not others. Children with LCHADD
to be absent or not working
should be followed by a metabolic
correctly?
doctor in addition to their primary
How is LCHADD inherited?
doctor.
Is there genetic testing available?
What other testing is available?
What is LCHADD?
Can you test during pregnancy?
LCHADD stands for long chain 3-
Can other members of the family
hydroxyacyl-CoA dehydrogenase
have LCHADD or be carriers?
deficiency. It is one type of fatty acid
enlarged liver and other liver 1. Avoid going a long time without
problems food
enlarged heart and other heart Infants and young children with
problems LCHADD need to eat frequently to
vision loss due to build-up of prevent a metabolic crisis. Your
pigment in the retina metabolic doctor will tell you how often
anemia your child needs to be fed. In general,
nerve problems it is often suggested that infants be fed
bouts of muscle weakness and every four to six hours. Some babies
pain, especially after heavy need to eat even more frequently than
exercise or illness this. It is important that infants be fed
during the night. They may need to be
Some children with LCHADD have
woken up to eat if they do not wake up
never had symptoms and are only
on their own. Your metabolic doctor
found to be affected after a brother or
and dietician will give you an
sister is diagnosed.
appropriate feeding plan for your
infant. Your doctor will also give you a
What is the treatment for LCHADD?
sick day plan tailored to your childs
Your baby's primary doctor will work
needs for you to follow during illnesses
with a metabolic doctor to care for your
or other times when your child will not
child. Your doctor may also suggest
eat.
that you meet with a dietician familiar
with LCHADD.
Your metabolic doctor will continue to
advise you on how often your child
Certain treatments may be advised for
should eat as he or she gets older.
some children but not others. When
When they are well, many teens and
necessary, treatment is usually needed
adults with LCHADD can go without
throughout life. The following are
food for up to 12 hours without
treatments often recommended for
problems. The other treatments usually
children with LCHADD:
need to be continued throughout life.
when your child has any of the Long periods of heavy exercise can
following: also trigger symptoms. Effects of
exercise may include:
poor appetite
muscle aches
low energy or excessive
cramps
sleepiness
weakness
vomiting
reddish-brown color to the urine
diarrhea
(caused by breakdown of muscle
an infection
fibers)
a fever
persistent muscle pain or If muscle symptoms occur, prompt
weakness, or reddish-brown treatment is needed to prevent kidney
color to the urine damage. Children or adults with
muscle symptoms should:
Children with LCHADD need to eat
drink fluids right away
extra starchy food and drink more
eat something starchy or sugary
fluids during any illness - even if they
get to a hospital for treatment
may not feel hungry or they could
develop hypoglycemia. Children who To help prevent muscle symptoms:
are sick often dont want to eat. If they avoid prolonged or heavy
wont or cant eat, children with exercise
LCHADD may need to be treated in the keep the body warm
hospital to prevent problems. eat carbohydrates before and
during periods of moderate
Ask your metabolic doctor if you
exercise
should carry a special travel letter with
medical instructions for your childs What happens when LCHADD is
care. treated?
With prompt and careful treatment,
5. Avoid prolonged exercise or
children with LCHADD can often live
exertion.
healthy lives with typical growth and non-working gene for the condition
development. from each parent.
Even with treatment, some people with Parents of children with LCHADD are
LCHADD continue to have episodes of rarely affected with the disorder.
hypoglycemia. This can lead to Instead, each parent has a single non-
learning problems or mental working gene for LCHADD. They are
retardation. And, even with treatment, called carriers. Carriers do not have
some people still develop vision, LCHADD because the other gene of
muscle, liver or heart problems. this pair is working correctly.
What causes the LCHAD enzyme to When both parents are carriers, there
be absent or not working properly? is a 25% chance in each pregnancy for
Genes tell the body to make various the child to have LCHADD. There is a
enzymes. People with LCHADD have a 50% chance for the child to be a carrier,
pair of genes that do not work just like the parents. And, there is a
correctly. Because of the changes in 25% chance for the child to have two
this pair of genes, the LCHAD enzyme working genes.
either does not work properly or is not
made at all.
M
Where can Confirmatory Testing
edium chain
use certain types of fat for energy, and If a metabolic crisis is not treated, a
must rely solely on glucose. Although child with MCADD can develop:
glucose is a good source of energy, breathing problems
there is a limited amount available. seizures
Once the glucose has been used up, the coma, sometimes leading to
body tries to use fat without success. death
This leads to low blood sugar, called
Between episodes of metabolic crisis,
hypoglycemia, and to the buildup of
people with MCADD are usually
harmful substances in the blood.
healthy. However, repeated episodes
If MCADD is not treated, what can cause permanent brain damage.
problems occur? This may result in learning problems,
MCADD can cause bouts of illness mental retardation or spasticity.
called metabolic crises. Children with
Symptoms often happen after having
MCADD often show effects for the first
nothing to eat for more than a few
time between three months and three
hours.
years of age. Some of the first
Hypoglycemia can occur, with or
symptoms of a metabolic crisis are:
without other symptoms of metabolic
extreme sleepiness crisis, just by going too long without
behavior changes food. Hypoglycemia can cause a person
irritable mood to feel weak, shaky, or dizzy, and to
poor appetite have clammy, cold skin. If not treated,
hypoglycemia can lead to coma and
Some of these other symptoms may
even death.
also follow:
fever Hypoglycemia and metabolic crises are
diarrhea also more likely to occur when a person
vomiting with MCADD gets sick or has an
hypoglycemia infection.
Some children with MCADD have very to eat if they do not wake up on their
mild symptoms or no symptoms at all. own. Your metabolic doctor and
dietician will give you an appropriate
feeding plan for your infant. Your
What is the treatment for MCADD?
doctor will also give you a sick day
Your babys primary doctor will work
plan, tailored to your childs needs, for
with a metabolic doctor to care for your
you to follow during illnesses or other
child. Your doctor may also suggest
times when your child will not eat.
that you meet with a dietician familiar
with MCADD. Your metabolic doctor will continue to
advise you on how often your child
Certain treatments may be advised for
should eat as he or she gets older.
some children but not others. When
When they are well, many teens and
necessary, treatment is usually needed
adults with MCADD can go without
throughout life. The following are
food for up to 12 hours without
treatments often recommended for
problems. Most children do not have
children with MCADD:
metabolic crises past the age of ten.
However, some may need to continue
1. Avoid going a long time without
treatment throughout life.
food
Infants and young children with
2.Diet
MCADD need to eat frequently to
Sometimes a low fat, high
prevent hypoglycemia or a metabolic
carbohydrate food plan is
crisis. Your metabolic doctor will tell
recommended. Carbohydrates give the
you how often your child needs to be
body many types of sugar that can be
fed. In general, it is often suggested
used as energy. In fact, for children
that infants be fed every four to six
needing this treatment, most food in
hours. Some babies need to eat even
the diet should be carbohydrates
more frequently than this. It is
(bread, pasta, fruit, vegetables, etc.)
important that infants be fed during the
and protein (lean meat and low-fat
night. They may need to be woken up
Your doctor will decide whether or not Ask your metabolic doctor if you
your child needs L-carnitine. Unless should carry a special travel letter with
you are advised otherwise, use only L- medical instructions for your childs
carnitine prescribed by your doctor. Do care.
not use any medications without
What happens when MCADD is
checking with your doctor.
treated?
4. Call your doctor at the start of any
With prompt and careful treatment,
illness
children with MCADD usually live
Always call your health care provider
healthy lives with typical growth and
when your child has any of the
development. The goal of treatment is
following:
to prevent long-term problems.
1. poor appetite
However, children who have repeated
metabolic crises may have life-long the other gene of this pair is working
learning disabilities, spasticity, chronic correctly. When both parents are
muscle weakness or other effects. carriers, there is a 25% chance in each
pregnancy for the child to have
What causes the MCAD enzyme to be
MCADD. There is a 50% chance for the
absent or not working correctly?
child to be a carrier, just like the
Genes tell the body to make various
parents. And, there is a 25% chance for
enzymes. People with MCADD have a
the child to have two working genes.
pair of genes that do not work
correctly. Because of the changes in
this pair of genes, the MCAD enzyme
either does not work properly or is not
made at all.
pregnancies, and how to test other If both gene changes have been found
family members. Ask your doctor about in your child with MCADD, DNA
a referral to a genetic counselor. testing can be done during future
pregnancies. The sample needed for
Is genetic testing available?
this test is obtained by either CVS or
Genetic testing for MCADD can be
amniocentesis.
done on a blood sample. Genetic
testing, also called DNA testing, looks If DNA testing would not be helpful, an
for changes in the pair of genes that enzyme test can be done during
cause MCADD. In many children with pregnancy on cells from the fetus.
MCADD, both gene changes can be Again, the sample needed for this test
found. However, in other children, only is obtained by either CVS or
one or neither of the two gene changes amniocentesis.
can be found, even though we know
Parents may either choose to have
they are present.
testing during pregnancy or wait until
DNA testing is not necessary to birth to have the baby tested. A genetic
diagnose your child. It can be helpful counselor can talk to you about your
for carrier testing or prenatal diagnosis, choices and answer questions about
discussed below. prenatal testing or testing your baby
after birth.
What other testing is available?
MCADD can also be confirmed either Can other members of the family
by a blood test called an acylcarnitine have MCADD or be carriers?
profile or an enzyme test on a skin Having MCADD
sample. Talk to your doctor or your
The brothers and sisters of a baby with
genetic counselor if you have questions
MCADD have a chance of being
about testing for MCADD.
affected, even if they have had no
Can you test during pregnancy? symptoms. Finding out whether other
children in the family have MCADD is
Each of the parents brothers and All women with a family history of
sisters has a 50% chance to be an MCADD should share this information
MCADD carrier. It is important for with their obstetricians and other
other family members to be told that health care providers before and during
they could be carriers. There is a small any future pregnancies. Knowing about
chance they are also at risk to have these risks allows better medical care
children with MCADD. and early treatment if needed.
All states offer newborn screening for Can other family members be tested?
MCADD. However, when both parents
Diagnostic testing
are carriers, newborn screening results
Brothers and sisters can be tested for
are not sufficient to rule out MCADD in
MCADD using DNA testing or other
a newborn baby. In this case, special
special tests.
diagnostic testing should be done in
addition to newborn screening. Carrier Testing
If both gene changes have been found
If DNA testing would not be helpful, What is the cost of the confirmatory
carrier testing can also be done by an test?
enzyme test on a skin sample. 350 (+ 100 for fibroblast culturing)
Center
Does MCADD go by any other
PreventiNe Lifecare Pvt. Ltd.
names?
RPT House, Plot No. 6, Sector 24,
Turbhe, Navi Mumbai 400705 MCADD is also sometimes called:
Ph: 022-61980000/11
MCAD deficiency
Academic Medical Center ACADM deficiency
Laboratory Genetic Metabolic MCADH deficiency
Diseases (F0-132)
Meibergdreef 9 Where can I find more information?
1105 AZ Amsterdam
Genetic Alliance
http://www.geneticalliance.org
Mito Action
http://www.mitoaction.org
S
Where can Confirmatory Testing
hort chain acyl-
What is the treatment for this information may not apply to your
will tell you whether your child needs Ask your doctor whether or not your
to be fed more often than normal. If so, child needs to have any changes in his
you will receive an eating plan tailored or her diet.
to your childs specific needs.
3. L-Carnitine and Riboflavin
Your metabolic doctor will continue to Some children may be helped by taking
advise you on how often your child L-carnitine. This is a safe and natural
should eat as he or she gets older. substance that helps the body create
When they are well, most teens and energy. It also helps the body get rid of
adults with SCADD can go without harmful wastes. Your doctor will
food for up to 12 hours. People who decide whether or not your child needs
have had symptoms may need to L-carnitine. Unless you are advised
continue the other treatments otherwise, use only L-carnitine
throughout life. prescribed by your doctor. A few
children with SCADD have been helped
2.Diet
by riboflavin (vitamin B2) supplements.
A low fat, high carbohydrate food plan
Ask your metabolic doctor whether
may be advised for some children with
your child should take riboflavin.
SCADD. Carbohydrates give the body
many types of sugar that can be used Do not use any medications or
as energy. In fact, for children needing supplements without checking with
this treatment, most food in the diet your doctor.
should be carbohydrates (bread, pasta,
4. Call your doctor at the start of any
fruit, vegetables, etc.) and protein (lean
illness
meat and low-fat dairy foods). Any diet
Call your health care provider when
changes should be made under the
your child has any of the following:
guidance of a dietician familiar with
SCADD.
1. poor appetite
2. low energy or excessive
sleepiness
SCAD deficiency
S
Can other family members be
hort Chain 3-
tested?
Hydroxyacyl-CoA Where can Confirmatory Testing
be done for this condition?
Dehydrogenase What is the cost of the
confirmatory test?
Deficiency
How many people have
Disorder Name: Short chain 3- M/SCHADD?
hydroxyacyl-CoA dehydrogenase Does M/SCHADD happen more
deficiency often in a certain ethnic group?
Acronym: M/SCHADD Does M/SCHADD go by any other
names?
What is M/SCHADD?
Where can I find more
What causes M/SCHADD?
information?
If M/SCHADD is not treated, what
problems occur? This fact sheet contains general
What is the treatment for information about M/SCHADD. Every
M/SCHADD? child is different and some of this
What happens when M/SCHADD information may not apply to your child
is treated? specifically. Very little is known about
What causes the SCHAD enzyme M/SCHADD and, at present, there is no
to be absent or not working standard treatment plan. Certain
correctly? treatments may be recommended for
How is M/SCHADD inherited? some children but not others. Children
Is there genetic testing available? with M/SCHADD should be followed
What other testing is available? by a metabolic doctor in addition to
Can you test during pregnancy? their primary doctor.
Can other members of the family
have M/SCHADD or be carriers? What is M/SCHADD?
1. poor appetite
Ask your doctor whether your child
2. low energy or excessive
needs to have any changes in his or her
sleepiness
diet.
3. vomiting
3. L-carnitine supplements and other 4. diarrhea
medications 5. an infection
Some children may be helped by taking 6. a fever
L-carnitine. This is a safe and natural 7. persistent muscle pain or
substance that helps the body create weakness
energy. It also helps the body get rid of
Children who have had symptoms of
harmful wastes. Your doctor will
M/SCHADD need to eat extra starchy
decide whether your child needs L-
food and drink more fluids during any
carnitine. Unless you are advised
illness - even if they may not feel
otherwise, use only L-carnitine
hungry - or they could develop a
prescribed by your doctor.
metabolic crisis. Children who are sick
Babies with high insulin levels may often dont want to eat. If they wont or
need medication. Your doctor will let cant eat, children with symptoms of
you know if your child needs to take M/SCHADD may need to be treated in
medication for this. the hospital to prevent problems.
Ask your metabolic doctor if you either does not work properly or is not
should carry a special travel letter with made at all.
medical instructions for your childs
How is M/SCHADD inherited?
care.
M/SCHADD is inherited in an
What happens when M/SCHADD is autosomal recessive manner. It affects
treated? both boys and girls equally.
It is not known how effective treatment
Everyone has a pair of genes that make
is in preventing health problems. It is
the SCHAD enzyme. In children with
hoped that with prompt and careful
M/SCHADD, neither of these genes
treatment children with M/SCHADD
works correctly. These children inherit
will be able to live healthy lives with
one non-working gene for the condition
typical growth and development.
from each parent.
The goal of treatment is to prevent
Parents of children with M/SCHADD
death and serious health problems.
rarely have the disorder. Instead, each
However, children who have repeated
parent has a single non-working gene
episodes of hypoglycemia or metabolic
for M/SCHADD. They are called
crisis may develop brain damage. This
carriers. Carriers do not have
can result in learning disabilities,
M/SCHADD because the other gene of
mental retardation or other lifelong
this pair is working correctly.
effects.
birth to have the baby tested. A genetic Each of the parents brothers and
counselor can talk to you about your sisters has a 50% chance to be a
choices and answer other questions M/SCHADD carrier. It is important for
you may have about prenatal testing or other family members to be told that
testing your baby after birth. they could be carriers. There is a very
small chance they are also at risk to
Can other members of the family
have children with M/SCHADD.
have M/SCHADD or be carriers?
Some states do not offer newborn
Having M/SCHADD
screening for M/SCHADD. However,
The brothers and sisters of a baby with expanded newborn screening through
private labs is available for babies born
M/SCHADD have a small chance of
in states that do not screen for
having this condition, even if they
M/SCHADD.
havent had symptoms. Finding out
whether other children in the family
When both parents are M/SCHADD
have M/SCHADD may be important
carriers, newborn screening results are
because early treatment may prevent
not sufficient to rule out M/SCHADD in
serious health problems. Talk to your
a newborn baby. In this case, special
doctor or genetic counselor about
diagnostic testing should be done in
testing your other children for
addition to newborn screening.
M/SCHADD.
during any future pregnancies. RPT House, Plot No. 6, Sector 24,
T
Can other family members be
rifunctional tested?
Where can Confirmatory Testing
protein be done for this condition?
deficiency deficiency?
one non-working gene for the condition is a 25% chance for the child to have
from each parent. two working genes.
Parents may either choose to have Each of the parents brothers and
testing during pregnancy or wait until sisters has a 50% chance to be a TFP
birth to have the baby tested. A genetic deficiency carrier. It is important for
counselor can talk to you about your other family members to be told that
choices and answer questions about they could be carriers. There is a small
prenatal testing or testing your baby chance they are also at risk to have
after birth. children with TFP deficiency.
mitochondrial trifunctional
protein deficiency
V
Where can Confirmatory Testing
ery long chain
FAODs are inherited in an autosomal whenever our bodies run low of their
recessive manner and affect both main source of energy, a type of sugar
Symptoms of early and childhood periods of not eating. Other effects can
VLCADD often happen after a period of include:
having nothing to eat for more than a
enlarged liver
few hours. Symptoms are also more
other liver problems
likely when a child with VLCADD gets
muscle weakness, especially
sick or has an infection.
after exercise
Early VLCADD
Heart problems are usually not seen in
About half of babies diagnosed with
childhood VLCADD.
VLCADD have the early type. They
usually start to show effects between Some children with VLCADD have
birth and 4 months. In addition to never had symptoms and are only
metabolic crises, babies can also have:
found to be affected after a brother or
sister has been diagnosed.
enlarged heart, irregular
heartbeat and other heart Adult VLCADD
problems
About one fifth of people with VLCADD
enlarged liver and other liver
have the adult type. They usually show
problems
symptoms starting in the teen years or
muscle problems in adulthood. Periods of muscle
weakness are common. Breakdown of
If not treated, babies with early
muscle fibers can occur. This usually
VLCADD usually die young.
happens during heavy exercise or after
Childhood VLCADD going without food for a long period of
About one third of people with time.
VLCADD have the childhood type. Signs of muscle breakdown are:
They usually show symptoms in late
muscle aches
infancy or early childhood. Episodes of
weakness
hypoglycemia or full metabolic crisis
cramps
happen during illness or after long
of sugar that can be used as energy. In need to get a prescription from your
fact, for children needing this doctor to get MCT oil.
treatment, most food in the diet should
Some children may be helped by taking
be carbohydrates (bread, pasta, fruit,
L-carnitine. This is a safe and natural
etc.) and protein (lean meat and low-fat
substance that helps the body make
dairy foods). Any diet changes should
energy. It also helps the body get rid of
be made under the guidance of an
harmful wastes. Your doctor will
experienced dietician.
decide whether your child needs L-
People with VLCADD cannot use carnitine. Unless you are advised
certain building blocks of fat called otherwise, use only L-carnitine
long chain fatty acids. Your dietician prescribed by your doctor.
can help create a food plan low in these
Do not use any medication or
fats. Much of the rest of fat in the diet
supplement without checking with your
may be in the form of medium chain
doctor.
fatty acids.
What causes the VLCAD enzyme to When both parents are carriers, there
be absent or not working correctly? is a 25% chance in each pregnancy for
Genes tell the body to make various the child to have VLCADD. There is a
enzymes. People with VLCADD have a 50% chance for the child to be a carrier,
pair of genes that do not work just like the parents. And, there is a
correctly. Because of the changes in 25% chance for the child to have two
this pair of genes, the VLCAD enzyme working genes.
either does not work properly or is not
Genetic counseling is available to
made at all.
families who have children with
How is VLCADD inherited?
other family members. Ask your doctor Yes, it is possible to test for VLCADD
about a referral to a genetic counselor. during pregnancy. The sample needed
for this test is obtained by either CVS
Is there genetic testing available?
or amniocentesis.
Genetic testing for VLCADD can be
done on a blood sample. Genetic Parents may either choose to have
testing, also called DNA testing, looks testing during pregnancy or wait until
for changes in the pair of genes that birth to have the baby tested. A genetic
causes VLCADD. counselor can talk to you about your
choices and answer other questions
DNA testing is often used to diagnose
you may have about prenatal testing or
VLCADD in children. In addition to
testing your baby after birth.
establishing a diagnosis, DNA testing
can also tell what type of VLCADD a Can other members of the family
person has early, childhood or adult. have VLCADD or be carriers?
It can also be helpful for carrier testing
Having VLCADD
or prenatal diagnosis, discussed below.
The brothers and sisters of a baby with
Talk with your metabolic doctor or
VLCADD have a chance of being
genetic counselor about whether DNA
affected, even if they havent had
testing for VLCADD would be helpful
symptoms. Finding out whether other
to you.
children in the family have VLCADD is
What other testing is available? important because early treatment may
VLCADD can be confirmed by a special prevent serious health problems. Talk
test called a "fatty acid oxidation to your doctor or genetic counselor
probe using a skin sample. Talk to about testing your other children for
your doctor or genetic counselor if you VLCADD.
have questions about testing for
VLCADD Carriers
VLCADD.
Brothers and sisters who do not have
Can you test during pregnancy? VLCADD still have a chance to be
carriers like their parents. Except in abnormal fat storage in the liver
special cases, carrier testing should severe bleeding
only be done in people over 18 years of
All women with a family history of
age.
VLCADD should share this information
Each of the parents brothers and with their obstetricians and other
sisters has a 50% chance to be a health care providers before and during
VLCADD carrier. It is important for any future pregnancies. Knowing about
other family members to be told that these risks allows early treatment.
they could be carriers. There is a small
Can other family members be tested?
chance they are also at risk to have
children with VLCADD. Diagnostic testing
Brothers and sisters of a child with
All states offer newborn screening for
VLCADD can have special testing to
VLCADD. However, when both parents
check for this disorder. Ask you
are carriers, newborn screening results
metabolic doctor whether your other
are not sufficient to rule out VLCADD
children should be tested for VLCADD.
in a newborn baby. In this case, special
diagnostic testing should be done in
Carrier testing
addition to newborn screening. Carrier testing may be available to
other family members. Your metabolic
During pregnancy, women carrying
doctor or genetic counselor can advise
fetuses with VLCADD may be at
you about carrier testing. .
increased risk to develop serious
medical problems. A small number of Where can Confirmatory Testing be
women are known to have developed:
done for this condition?
The confirmatory test for the diagnosis
excessive vomiting
is done by Gas Chromatography Mass
abdominal pain
Spectrometry (GC/MS) using urine
high blood pressure
sample or by Carrier gene analysis for
jaundice
ACADVL gene extracted from either have symptoms of the condition and
patient lymphocytes (EDTA or Heparin are thought to have the childhood or
whole blood sample) or skin fibroblasts adult forms of VLCADD.
collected at 2-6 months of age.
Does VLCADD happen more
Center frequently in a certain ethnic group?
PreventiNe Lifecare Pvt. Ltd. No, VLCADD does not happen more
RPT House, Plot No. 6, Sector 24, often in any specific race, ethnic group,
Turbhe, Navi Mumbai 400705 geographical area or country.
Ph: 022-61980000/11
Does VLCADD go by any other
Academic Medical Center names?
Laboratory Genetic Metabolic VLCADD is sometimes also called:
Diseases (F0-132)
Meibergdreef 9 VLCAD deficiency
The Netherlands
Where can I find more information?
Ph: +31 20 5662026 / 5393
Fatty Oxidation Disorders (FOD)
E-mail: gmz_enzym@amc.nl
Family Support Group
test?
United Mitochondrial Disease
=com_content&view=article&id=43:vlca
d&catid=7:resourcesx
Mito Action
http://www.mitoaction.org/
B
What is the cost of the
eta ketothiolase
confirmatory test?
deficiency How many people have BKD?
Does BKD happen more often in a
Disease name: Beta ketothiolase certain ethnic group?
deficiency Does BKD go by any other
Acronym: BKD names?
Where can I find more
What is BKD?
information?
What causes BKD?
If BKD is not treated, what This fact sheet has general information
problems occur? about BKD. Every child is different and
What is the treatment for BKD? some of these facts may not apply to
What happens when BKD is your child specifically. Certain
treated? treatments may be recommended for
What causes the MAT enzyme to some children but not others. All
be absent or not working children with BKD should be followed
correctly? by a metabolic doctor in addition to
How is BKD inherited? their primary doctor.
Is genetic testing available?
What is BKD?
What other testing is available?
BKD stands for beta ketothiolase
Can you test during pregnancy?
deficiency. It is one type of organic
Can other members of the family
acid disorder. People with BKD have
have BKD or be carriers?
problems breaking down an amino acid
Can other family members be
called isoleucine from the food they eat.
tested?
Where can Confirmatory Testing
be done for this condition?
Your metabolic doctor will continue to If it is necessary for your child to eat a
advise you on how often your child low-protein diet, your dietician can
should eat as he or she gets older. help you create a food plan that meets
When they are well, many teens and your childs needs. Any diet changes
adults with BKD can go without food should be made under the guidance of
for up to 12 hours without problems. a dietician.
The other treatments usually need to
4. Tracking ketone levels
be continued throughout life.
Periodic urine tests to test the level of
3. Low-protein diet ketones may be necessary. This can be
Some children may be able to eat done at home or at the doctors office.
normal amounts of protein, but others Ketones are substances formed when
will need to be on a low-protein diet. body fat is broken down for energy.
This happens after going without food
Foods high in protein that may need to
for long periods of time, during illness,
be limited include:
or during periods of heavy exercise.
milk and dairy products
Ketones in the urine may signal the
meat and poultry
start of a metabolic crisis.
fish
eggs 5. Call your doctor at the start of any
dried beans illness
nuts and peanut butter In some children, even minor illness
can lead to a metabolic crisis. In order
Eating large amounts of these foods
to prevent problems, call your doctor
can cause protein levels to become too
right away when your child has any of
high, causing illness. However, do not
the following:
remove all protein from the diet.
Children with BKD need a certain loss of appetite
amount of protein to grow properly. vomiting
diarrhea
infection or illness
When both parents are carriers, there pregnancies, and how to test other
is a 25% chance in each pregnancy for family members. Ask your doctor about
the child to have BKD. There is a 50% a referral to a genetic counselor.
chance for the child to be a carrier, just
Is genetic testing available?
like the parents. And, there is a 25%
Genetic testing for BKD is available.
chance for the child to have two
Genetic testing, also called DNA
testing, looks for changes in the pair of
genes that causes BKD. Talk with your
genetic counselor or metabolic doctor
if you have questions about DNA
testing.
working genes.
Can you test during pregnancy?
families who have children with BKD. in your child, DNA testing can be done
Genetic counselors can answer your during future pregnancies. The sample
questions about how the condition is needed for this test is obtained by
(F0-132) acidemia
MAT deficiency
T2 deficiency
3-oxothiolase deficiency
3-ketothiolase deficiency
3-KTD deficiency
Genetic Alliance
http://www.geneticalliance.org/
G
How many people have GA-1?
lutaric acidemia,
protein from the food we eat for use by acids lysine, hydroxylysine and
the body. Problems with one or more tryptophan are processed. It cannot be
sheets for each specific organic acid called metabolic crises. Some of the
poor appetite
extreme sleepiness or lack of
energy
irritability
jitteriness
nausea
vomiting
low muscle tone (floppy muscles
and joints)
muscle weakness
problems fever
metabolic acidosis
Other effects of GA-1 that can happen
seizures
even without a metabolic crisis are:
swelling of the brain or blood in
poor growth
the brain
enlarged liver
coma, sometimes leading to
low muscle tone
death
progressive spasticity
Many vegetables and fruits have only her age, weight, general health, and
small amounts of lysine and tryptophan blood test results. Your dietician will
and can be eaten in carefully measured fine-tune your childs diet over time.
amounts.
The long-term benefits of the special
Do not remove all protein from the diet. diet and medical foods are not yet
Your child still needs a certain amount known. However, it is important to
of protein for normal growth and follow the food plan as long as your
development. Any changes in the diet doctor advises.
should be made under the guidance of
4. Regular blood tests
a dietician familiar with GA-1.
Your child will have regular blood tests
Medical foods and formula to measure his or her amino acid levels.
There are medical foods such as Urine tests may also be done. Your
special low-protein flours, pastas, and childs diet and medication may need to
rice that are made especially for people be adjusted based on blood and urine
with organic acid disorders. test results.
A special medical formula that contains 5. Call your doctor at the start of any
the right level of amino acids and illness
nutrients for your child may be For some babies and children, even
recommended. Your metabolic doctor minor illness can lead to a metabolic
and dietician will tell you whether your crisis. In order to prevent problems,
child should be on this formula and call your doctor right away when your
how much to use. Some states offer child has any of the following:
help with payment, or require private
loss of appetite
insurance to pay for the formula and
low energy or extreme
other special medical foods.
sleepiness
Your childs exact food plan will vomiting
depend on many things such as his or fever
Children with GA-1 need to eat more What causes the glutaryl-CoA
carbohydrates and drink more fluids dehydrogenase enzyme to be absent
when they are ill even if theyre not or not working correctly?
hungry or they could have a
Genes tell the body to make various
metabolic crisis.
enzymes. People with GA-1 have a pair
Children who are sick often dont want of genes that do not work correctly.
to eat. If they cant eat, or if they show Because of the changes in this pair of
signs of a metabolic crisis, they may genes, the glutaryl-CoA dehydrogenase
need to be treated in the hospital. Ask enzyme either does not work properly
your metabolic doctor if you should or is not made at all.
Carriers do not have GA-1 because the questions about how the condition is
other gene of this pair is working inherited, choices during future
correctly. pregnancies, and how to test other
family members. Ask your doctor about
When both parents are carriers, there
a referral to a genetic counselor.
is a 25% chance in each pregnancy for
the child to have GA-1. There is a 50% Is genetic testing available?
chance for the child to be a carrier, just Genetic testing for GA-1 can be done
like the parents. And, there is a 25% on a blood sample. Genetic testing,
chance for the child to have two also called DNA testing, looks for
working genes. changes in the pair of genes that cause
GA-1.
If DNA testing would not be helpful, an cases, carrier testing should only be
enzyme test can be done on cells from done in people over 18 years of age.
the fetus. The sample needed for this
Each of the parents brothers and
test is obtained by either CVS or
sisters has a 50% chance to be a
amniocentesis.
carrier. It is important for other family
Parents may choose to have testing members to be told that they could be
during pregnancy or wait until birth to carriers. There is a small chance they
have the baby tested. A genetic are also at risk to have children with
counselor can talk to you about your GA-1.
choices and answer questions about
All states offer newborn screening for
prenatal testing or testing your baby
BKD. However, when both parents are
after birth.
carriers, newborn screening results are
Can other members of the family not sufficient to rule out BKD in a
have GA-1 or be carriers? newborn baby. In this case, special
Having GA-1 diagnostic testing should be done in
The brothers and sisters of a baby with addition to newborn screening.
GA-1 have a chance of being affected,
Can other family members be tested?
even if they havent had symptoms.
Finding out whether other children in Diagnostic testing
the family have GA-1 is important
Brothers and sisters of a child with GA-
because early treatment may prevent
1 can be tested using blood, urine or
serious health problems. Talk to your
skin samples.
metabolic doctor or genetic counselor
about testing your other children. Carrier testing
If both gene changes have been found
GA-1 carrier
in your child, other family members
Brothers and sisters who do not have can have DNA testing to see if they are
GA-1 still have a chance to be carriers carriers.
like their parents. Except in special
Center ancestry.
Glutarate-aspartate transport
defect
Genetic Alliance
http://www.geneticalliance.org/
H
Where can Confirmatory Testing
olocarboxylase
What is HCSD?
This fact sheet contains general
What causes HCSD?
information about HCSD. Every child is
If HCSD is not treated, what
different and some of these facts may
problems occur?
not apply to your child specifically.
What is the treatment for HCSD?
Certain treatments may be
What happens when HCSD is
recommended for some children but
treated?
not others. All children with HCSD
What causes the HCS enzyme to
should be followed by a metabolic
be absent or not working
doctor in addition to their primary
correctly?
doctor.
How is HCSD inherited?
Is genetic testing available? What is HCSD?
What other testing is available? HCSD stands for holocarboxylase
Can you test during pregnancy? synthetase deficiency. It is one type of
Can other members of the family organic acid disorder. People with
have HCSD or be carriers? HCSD have problems changing protein
Can other family members be and carbohydrates from food into
tested? energy for the body.
rigid muscle tone, called know your child has HCSD. Your child
spasticity will need to take biotin by mouth on a
poor growth daily basis throughout life.
seizures
Biotin is usually the only medication
hearing loss
needed to treat HCSD. Your child will
vision loss
not need to restrict any activities or
Without treatment, most babies with change his or her diet.
HCSD will die.
What happens when HCSD is
What is the treatment for HCSD? treated?
Your babys primary doctor will work Babies who receive prompt and
with a metabolic doctor to provide care ongoing treatment with biotin before
for your child. they have a metabolic crisis are
expected to have normal growth and
The main treatment for HCSD is a type
development.
of B vitamin called biotin. In babies
found to have HCSD through newborn Even with treatment, a few children
screening, biotin treatment can prevent have developed life-long learning
symptoms from occurring. It can also problems or mental retardation. In
reverse some of the health problems in children who have already shown
children who have already shown delays in learning, or loss of hearing or
symptoms. You will need a prescription eyesight, treatment can prevent
from your doctor in order to purchase additional effects. But, it may not be
the amount of biotin your child will able to correct the effects that are
need. already present.
Prompt treatment with biotin is needed What causes the HCS enzyme to be
to prevent mental retardation and absent or not working correctly?
serious medical problems. You should Genes tell the body to make various
start the treatment as soon as you enzymes. People with HCSD have a
pair of genes that do not work chance for the child to have two
correctly. Because of these gene working genes.
changes, the HCS enzyme does not
work properly or is not made at all.
the other gene of this pair is working Genetic counselors can answer your
cases, carrier testing should only be Carrier testing for HCSD may be
done on people over 18 years of age. available. If you have questions about
carrier testing, ask your genetic
Each of the parents brothers and
counselor or metabolic doctor.
sisters has a 50% chance to be an
HCSD carrier. It is important for other Where can Confirmatory Testing be
family members to be told that they done for this condition?
could be carriers. There is a small
The confirmatory test for the
chance they are also at risk to have
diagnosis is done by Gas
children with HCSD.
Chromatography Mass Spectrometry
All states offer newborn screening for (GC/MS) using urine sample.
HCSD. However, when both parents
Center
are HCSD carriers, newborn screening
PreventiNe Lifecare Pvt. Ltd.
results are not sufficient to rule out the
RPT House, Plot No. 6, Sector 24,
condition in a newborn baby. In this
Turbhe, Navi Mumbai 400705
case, special diagnostic testing should
Ph: 022-61980000/11
be done in addition to newborn
screening. How many people have HCSD?
Less than one in 100,000 babies in the
Can other family members be tested?
United States is born with HCSD.
Diagnostic testing
Does HCSD happen more frequently
Diagnostic testing on blood or skin
in a certain ethnic group?
samples can be done for brothers or
No, HCSD does not happen more often
sisters of a child with HCSD. Talk to
in any specific race, ethnic group,
your doctor or genetic counselor if you
geographical area, or country.
have questions about testing for HCSD.
Holocarboxylase deficiency
HLCS deficiency
Multiple carboxylase deficiency,
early-onset
Infant multiple carboxylase
deficiency
MCD, neonatal form
Genetic Alliance
http://www.geneticalliance.org/
3 -Hydroxy-3-
Methylglutaryl-
Can other members of the family
have HMG lyase deficiency or be
carriers?
Can other family members be
CoA Lyase tested?
Where can Confirmatory Testing
Deficiency
group of rare inherited conditions. In order for the body to use protein
They are caused by enzymes that do from the food we eat, it is broken down
not work properly. A number of into smaller parts called amino acids.
protein from the food we eat for use by the amino acids so the body can use
People with organic acid disorders acids into ketone bodies. Normally,
cannot break down protein properly. during long periods without eating,
This causes harmful substances to ketones are made by the body and used
The symptoms and treatment vary either missing or not working properly.
This enzyme has two jobs. The first is
Your babys primary doctor will work and dietician will give you an
with a metabolic doctor and a dietician appropriate feeding plan for your
to care for your child. infant. Your doctor will also give you a
sick day plan, tailored to your childs
Prompt treatment is needed to prevent
needs, for you to follow during
metabolic crises and the health effects
illnesses or other times when your
that follow. You need to start treatment
child will not eat.
as soon as you know your child has
HMG lyase deficiency. Certain Your metabolic doctor will continue to
treatments may be advised for some advise you on how often your child
children but not others. Treatment is should eat as he or she gets older.
usually needed throughout life.
2. Low-leucine diet, including
The following are treatments often medical foods and formula
recommended for babies and children A food plan low in leucine with limited
with this condition: amounts of fat and protein is often
recommended. Most food in the diet
1. Avoid going a long time without
will be carbohydrates (bread, cereal,
food
pasta, fruit, vegetables, etc.).
Infants and young children with HMG
Carbohydrates give the body many
lyase deficiency need to eat frequently
types of sugar that can be used as
to prevent a metabolic crisis. Your
energy. Eating a diet high in
metabolic doctor will tell you how often
carbohydrates and low in protein and
your child needs to be fed. In general,
fat can help prevent low blood sugar
it is often suggested that infants be fed
and metabolic crises.
every four to six hours. Some babies
need to eat even more frequently than Foods high in protein and fat that your
this. It is important that infants be fed child may need to avoid or limit:
during the night. They may need to be milk and dairy products
woken up to eat if they do not wake up meat and poultry
on their own. Your metabolic doctor fish
medical instructions for your childs What happens when HMG lyase
care. deficiency is treated?
With prompt and careful treatment,
4. Call your doctor at the start of any
children with HMG lyase deficiency
illness
have a good chance to live healthy lives
In some children, even minor illnesses
with typical growth and development.
such as a cold or the flu can lead to a
metabolic crisis. In order to prevent Even with treatment, some children
problems, call your doctor right away still have repeated bouts of
when your child has any of the hypoglycemia or metabolic crises. This
following: can cause brain damage and may lead
loss of appetite to life-long learning problems or mental
vomiting retardation.
diarrhea
What causes the HMG CoA lyase
infection or illness
enzyme to be absent or not working
fever
correctly?
Children with HMG lyase deficiency Genes tell the body to make various
need to eat more carbohydrates and enzymes. People with HMG lyase
drink more fluids when they are ill deficiency have a pair of genes that do
even if theyre not hungry or they not work correctly. Because of the
could have a metabolic crisis. Also, changes in this pair of genes, the HMG
they need to avoid eating protein and CoA lyase enzyme either does not work
fat during any illness. properly or is not made at all.
Children who are ill often dont want to How is HMG lyase deficiency
eat. If they cant eat, or if they show inherited?
signs of a metabolic crisis, they may HMG lyase deficiency is inherited in an
need to be treated in the hospital. autosomal recessive manner. It affects
both boys and girls equally.
pair of genes that causes HMG lyase Testing has also been done in late
deficiency. Talk with your genetic pregnancy (after 23 weeks) using a
counselor or metabolic doctor if you urine sample from the mother.
have questions about DNA testing.
Parents may either choose to have
DNA testing is not necessary to testing during pregnancy or wait until
diagnose your child. If available, it can birth to have the baby tested. A genetic
be helpful for carrier testing or prenatal counselor can talk to you about your
diagnosis, discussed below. choices and answer questions about
prenatal testing or testing your baby
What other testing is available?
after birth.
Special tests on blood, urine, or skin
samples can be done to help confirm Can other members of the family
HMG lyase deficiency. Talk to your have HMG lyase deficiency or be
metabolic doctor or genetic counselor if carriers?
you have questions about testing for
Having HMG lyase deficiency
this condition.
The brothers and sisters of a baby with
Can you test during pregnancy? HMG lyase deficiency have a chance of
If both gene changes have been found being affected, even if they havent had
in your child, DNA testing can be done symptoms. Finding out whether other
during future pregnancies. The sample children in the family have the
needed for this test is obtained by condition is important because early
either CVS or amniocentesis. treatment may prevent serious health
problems. Talk to your metabolic
It may also be possible to do an
doctor or genetic counselor about
enzyme test using cells from the fetus.
testing your other children.
The sample needed for this test is
obtained by either CVS or
HMG lyase deficiency carriers
amniocentesis.
Brothers and sisters who do not have
HMG lyase deficiency still have a
chance to be carriers like their parents. If both gene changes have been found
Except in special cases, carrier testing in the child with HMG lyase deficiency,
should only be done in people over 18 other family members can have DNA
years of age. testing to see if they are carriers.
Each of the parents brothers and If DNA testing is not possible or is not
sisters has a 50% chance to be a helpful, other methods of carrier testing
carrier. It is important for other family may be available. Your metabolic
members to be told that they could be doctor or genetic counselor can answer
carriers. There is a small chance they your questions about carrier testing.
are also at risk to have children with
Where can Confirmatory Testing be
HMG lyase deficiency.
done for this condition?
All states offer newborn screening for The confirmatory test for the
HMG lyase deficiency. However, when diagnosis is done by Gas
both parents are carriers for HMG lyase Chromatography Mass Spectrometry
deficiency, newborn screening results (GC/MS) using urine sample
are not sufficient to rule out the Or by estimation of 3-Hydroxy-3-
condition in a newborn baby. In this methylglutaryl-CoA lyase activity in
case, special diagnostic testing should the cultured skin fibroblasts or
be done in addition to newborn peripheral blood mononuclear
screening. lymphocytes.
I
Where can Confirmatory Testing
sobutyryl-CoA
Symptoms included:
enlarged, weakened heart (called
cardiomyopathy)
anemia
poor growth
low carnitine levels (a substance
needed for the breakdown of
fatty acids)
IBD deficiency is very rare and little is provide care for your child.
Some states offer help with payment, or What causes the enzyme to be absent
require private insurance to pay for the or not working correctly?
formula and other special medical Genes tell the body to make various
foods. enzymes. People with IBD deficiency
have a pair of genes that do not work
If you are advised to change your
correctly. Because of the changes in
childs diet, it is important not to
this pair of genes, the isobutyryl-CoA
remove all protein from the diet.
dehydrogenase enzyme either does not
Children need a certain amount to grow
work properly or is not made at all.
properly. Your dietician will create a
food plan that contains the right
amount of protein, nutrients, and
How is IBD deficiency inherited?
energy to keep your child healthy.
IBD deficiency is inherited in an
What happens when IBD deficiency autosomal recessive manner. It affects
is treated? both boys and girls equally.
Although there is very little information Everyone has a pair of genes that make
available, it is thought that with prompt the isobutyryl-CoA dehydrogenase
and careful treatment, children with enzyme. In children with IBD
IBD deficiency will be able to live deficiency, neither of these genes
healthy lives with typical growth and works correctly. These children inherit
development. Treatment with carnitine one non-working gene for the condition
may reverse the heart problems and from each parent.
anemia and may improve growth.
Parents of children with IBD deficiency deficiency. Talk with your genetic
rarely have the disorder. Instead, each counselor or metabolic doctor if you
parent has a single non-working gene have questions about DNA testing.
for IBD deficiency. They are called
DNA testing is not necessary to
carriers. Carriers do not have IBD
diagnose your child. If available, it can
deficiency because the other gene of
be helpful for carrier testing or prenatal
this pair is working correctly.
diagnosis, discussed below.
When both parents are carriers, there
What other testing is available?
is a 25% chance in each pregnancy for
Special tests on blood, urine, or skin
the child to have IBD deficiency. There
samples can be done to confirm IBD
is a 50% chance for the child to be a
deficiency. Talk to your metabolic
carrier, just like the parents. And, there
doctor or genetic counselor if you have
is a 25% chance for the child to have
questions about testing for IBD
two working genes.
deficiency.
Genetic counseling is available to
families who have children with IBD
deficiency. Genetic counselors can
answer your questions about how IBD
deficiency is inherited, choices during
future pregnancies, and how to test
other family members. Ask your doctor
about a referral to a genetic counselor.
Can you test during pregnancy? children in the family have this
If both gene changes have been found condition is important because early
in your child with IBD deficiency, DNA treatment may prevent serious health
testing can be done during future problems. Talk to your metabolic
pregnancies. The sample needed for doctor or genetic counselor about
this test is obtained by either CVS or testing your other children.
amniocentesis.
IBD deficiency carriers
It may also be possible to do an
Brothers and sisters who do not have
enzyme test using cells from the fetus.
IBD deficiency still have a chance to be
The sample needed for this test is
carriers like their parents. Except in
obtained by either CVS or
special cases, carrier testing should
amniocentesis.
only be done in people over 18 years of
age.
Parents may either choose to have
testing during pregnancy or wait until
Each of the parents brothers and
birth to have the baby tested. A genetic
sisters has a 50% chance to be a
counselor can talk to you about your
carrier. It is important for other family
choices and answer questions about
members to be told that they could be
prenatal testing or testing your baby
carriers. There is a small chance they
after birth.
are also at risk to have children with
IBD deficiency.
Can other members of the family
have IBD deficiency or be carriers?
Some states do not provide newborn
screening for IBD deficiency. However,
Having IBD deficiency
expanded newborn screening through
The brothers and sisters of a baby with private labs is available for babies born
IBD deficiency have a small chance of in states that do not screen for this
being affected, even if they havent had condition.
symptoms. Finding out whether other
If both gene changes have been found medical literature, and most people
in the child with IBD deficiency, other with IBD have no symptoms. The
not be helpful, other methods of carrier IBD deficiency does not happen more
testing may be available. Your often in any specific race, ethnic group,
Genetic Alliance
http://www.geneticalliance.org/
I
What is the cost of the
sovaleric Acidemia
confirmatory test?
How many people have IVA?
Does IVA happen more often in a
Disorder name: Isovaleric Acidemia certain ethnic group?
Acronym: IVA Does IVA go by any other names?
Where can I find more
What is IVA?
information?
What causes IVA?
If IVA is not treated, what This fact sheet contains general
problems occur? information about IVA. Every child is
What is the treatment for IVA? different and some of these facts may
What happens when IVA is not apply to your child specifically.
treated? Certain treatments may be
What causes the Isovaleryl-CoA recommended for some children but
dehydrogenase enzyme to be not others. All children with IVA
absent or not working correctly? should be followed by a metabolic
How is IVA inherited? doctor in addition to their primary
Is genetic testing available? doctor.
What other testing is available?
What is IVA?
Can you test during pregnancy?
IVA stands for isovaleric acidemia. It
Can other members of the family
is one type of organic acid disorder.
have IVA or be carriers?
People with IVA have problems
Can other family members be
breaking down an amino acid called
tested?
leucine from the food they eat.
Where can Confirmatory Testing
be done for this condition?
What causes IVA? the amino acids so the body can use
In order for the body to use protein them.
from the food we eat, it is broken down
IVA occurs when an enzyme, called
into smaller parts called amino acids.
isovaleryl-CoA dehydrogenase, is
Special enzymes then make changes to
either missing or not working properly.
group of rare inherited conditions. They CoA. It is made in the body when the
are caused by enzymes that do not work amino acid leucine is broken down.
properly. A number of enzymes are When a child with IVA eats food
needed to process protein from the food containing leucine, a substance called
we eat for use by the body. Problems isovaleric acid builds up in the blood
with one or more of these enzymes can and causes problems. Leucine is found
poor appetite
extreme sleepiness or lack of
energy
vomiting
problems staying warm
an odor similar to sweaty feet
If not treated, many babies die during Your babys primary doctor will work
their first metabolic crisis. In those who with a metabolic doctor and a dietician
survive, repeated episodes of metabolic experienced with IVA to care for your
crisis can cause brain damage. This child.
can result in life-long learning
Prompt treatment is needed to prevent
problems or mental retardation.
metabolic crises and the health effects
Chronic/intermittent IVA that follow. You should start treatment
Symptoms often start around one year as soon as you know your child has
of age. Some children, though, do not IVA. Certain treatments may be
have symptoms until later in childhood. advised for some children but not
others. Treatment is usually needed
Episodes of metabolic crisis can be
throughout life.
brought on by illness, infection, or by
eating large amounts of protein. When The following are treatments often
a child is ill, body protein is broken recommended for babies and children
down for energy. In a child with IVA, with IVA:
this can cause high levels of isovaleric
1. Low-leucine diet, medical foods
acid and results in a metabolic crisis.
and formula
Between episodes of metabolic crisis, Most children need to eat a diet made
children with IVA are usually healthy. up of foods low in leucine. Special
medical foods and a leucine-free
Some people have very mild or no
formula are usually part of the diet.
symptoms and are only found to be
Your dietician will create a food plan
affected after a brother or sister is
that contains the right amount of
diagnosed. Newborn screening also
protein, nutrients, and energy to keep
identifies infants that may never
your child healthy. A special food plan
develop serious symptoms.
should be continued throughout life.
Foods high in protein (and leucine) that In addition to a low-protein diet, many
may need to be avoided or limited children are given a special leucine-free
include: medical formula. Your metabolic doctor
milk and dairy products and dietician will decide whether your
meat and poultry child needs this formula. Some states
fish offer help with payment, or require
eggs private insurance to pay for the formula
dried beans and legumes and other special medical foods.
nuts and peanut butter
2. Medications
Eating large amounts of these foods
Glycine is an amino acid that helps the
can cause isovaleric acid levels to rise,
body get rid of isovaleric acid. It is
causing illness.
often given as a supplement to children
Many vegetables and fruits have only with IVA. It may help prevent
small amounts of protein and can be metabolic crises. Your doctor will tell
eaten in carefully measured amounts. you whether your child needs glycine
and how much to use.
Do not remove all protein from the diet.
Children with IVA need a certain Some children may benefit by taking L-
amount to grow properly. Any diet carnitine. This is a safe and natural
changes should be under the guidance substance that helps body cells make
of a dietician. energy. It also helps the body get rid of
isovaleric acid and other harmful
Medical foods and formula
wastes. Your doctor will decide
There are medical foods such as
whether or not your child needs L-
special low-protein flours, pastas, and
carnitine. Unless you are advised
rice that are made especially for people
otherwise, use only L-carnitine
with organic acid disorders. Your
prescribed by your doctor.
dietician will tell you how to use these
Do not use any medication or
foods to supplement your childs diet.
supplement without checking with your metabolic crisis. In addition, they need
metabolic doctor. to avoid eating protein when they are
ill.
Children with symptoms of a metabolic
crisis need medical treatment right Children who are sick often dont want
away. They may need to be treated in to eat. If they cant eat, or if they show
the hospital. During a metabolic crisis, signs of a metabolic crisis, they may
children may be given bicarbonate, need to be treated in the hospital. Ask
glucose, and other medications by IV to your metabolic doctor if you should
help reduce the acid levels in the carry a special travel letter with
blood. medical instructions for your childs
care.
3. Call your doctor at the start of any
illness What happens when IVA is treated?
In some children, even minor illnesses With prompt and careful treatment,
such as a cold or the flu can lead to a children with IVA have a good chance
metabolic crisis. In order to prevent to live healthy lives with typical growth
problems, call your doctor right away and development.
when your child has any of the
Even when treated, some children still
following:
have repeated bouts of metabolic
loss of appetite crisis. This can lead to life-long
vomiting learning problems or mental
diarrhea retardation. As they get older, children
infection or illness tend to have fewer metabolic crises.
fever
What causes the isovaleryl-CoA
Children with IVA need to eat more dehydrogenase enzyme to be absent
carbohydrates and drink more fluids or not working correctly?
when they are ill even if theyre not Genes tell the body to make various
hungry or they could have a enzymes. People with IVA have a pair
of genes that do not work correctly. chance for the child to have two
Because of the changes in this pair of working genes.
genes, the isovaleryl-CoA
Genetic counseling is available to
dehydrogenase enzyme either does not
families who have children with IVA.
work properly or is not made at all.
Genetic counselors can answer your
How is IVA inherited? questions about how the condition is
IVA is inherited in an autosomal inherited, choices during future
recessive manner. It affects both boys pregnancies, and how to test other
and girls equally. family members. Ask your doctor about
a referral to a genetic counselor.
Everyone has a pair of genes that make
the isovaleryl-CoA dehydrogenase Is genetic testing available?
enzyme. In children with IVA, neither Genetic testing for IVA can be done on
of these genes works correctly. These
children inherit one non-working gene
for the condition from each parent.
a blood sample. Genetic testing, also Parents may choose to have testing
called DNA testing, looks for changes during pregnancy or wait until birth to
in the pair of genes that causes IVA. If have the baby tested. A genetic
you have questions about DNA testing, counselor can talk to you about your
talk with your genetic counselor or choices and answer questions about
metabolic doctor. prenatal testing or testing your baby
after birth.
DNA testing is not necessary to
diagnose your child. However, it can be Can other members of the family
helpful for carrier testing or prenatal have IVA or be carriers?
diagnosis, discussed below.
Having IVA
What other testing is available? The brothers and sisters of a baby with
Special tests on blood, urine, or skin IVA may have a small chance of being
samples can be done to confirm IVA. affected, even if they havent had
Talk to your metabolic doctor or symptoms. Finding out whether other
genetic counselor if you have questions children in the family have this
about testing. condition is important because early
treatment may prevent serious health
Can you test during pregnancy?
problems. Talk to your metabolic
If both gene changes have been found
doctor or genetic counselor about
in your child, DNA testing can be done
testing your other children.
during future pregnancies. The sample
IVA carriers
needed for this test is obtained by
Brothers and sisters who do not have
either CVS or amniocentesis.
IVA still have a chance to be carriers
like their parents. Except in special
If DNA testing would not be helpful, an
cases, carrier testing should only be
enzyme test using cells from the fetus
done in people over 18 years of age.
can be done during pregnancy. The
sample needed for this test is obtained
Each of the parents brothers and
by either CVS or amniocentesis.
sisters has a 50% chance to be a
carrier. It is important for other family can answer your questions about
members to be told that they could be carrier testing.
carriers. There is a small chance they
Where can Confirmatory Testing be
are also at risk to have children with
done for this condition?
IVA.
Genetic Alliance
http://www.geneticalliance.org/
M ethylmalonic
Acidemia
How many people have MMA?
Does MMA happen more often in
a certain ethnic group?
Does MMA go by any other
Disorder name: Methylmalonic
names?
Acidemia
Where can I find more
Acronym: MMA
information?
What is MMA?
This fact sheet contains general
What causes MMA?
information about MMA. Every child is
If MMA is not treated, what
different and some of these facts may
problems occur?
not apply to your child specifically.
What is the treatment for MMA?
Certain treatments may be
What happens when MMA is
recommended for some children but
treated?
not others. All children with MMA
What causes the enzyme to be
should be followed by a metabolic
absent or not working correctly?
doctor in addition to their primary care
How is MMA inherited?
provider.
Is genetic testing available?
What other testing is available? What is MMA?
Can you test during pregnancy? MMA stands for methylmalonic
Can other members of the family acidemia. It is one type of organic acid
have MMA or be carriers? disorder. People with MMA have
Can other family members be problems breaking down and using
tested? certain amino acids and fatty acids
Where can Confirmatory Testing from the food they eat.
be done for this condition?
What causes MMA?
In order for the body to use protein the amino acids so the body can use
from the food we eat, it is broken down them. In the same way, fat from the
into smaller parts called amino acids. food we eat is broken down by
Special enzymes then make changes to enzymes into fatty acids that the body
can use for energy.
Organic Acid Disorders:
Organic acid disorders (OAs) are a MMA occurs when one of these special
They are caused by enzymes that do working properly. Without this enzyme,
not work properly. A number of certain amino acids and fatty acids
protein from the food we eat for use by glycine, methylmalonic acid, and other
the body. Problems with one or more harmful substances to build up in the
of these enzymes can cause an blood and urine and cause health
People with organic acid disorders There are a number of different forms
cannot break down protein properly. of MMA. Some forms can be treated
build up in their blood and urine. types are called vitamin B12
These substances can affect health, responsive. Two types of MMA that
person to person with the same cannot be treated with vitamin B12.
organic acid disorder. See the fact These types are called vitamin B12
sheets for each specific organic acid non-responsive. One of these is called
Isoleucine, valine, methionine, and Common blood and urine findings are:
threonine are the four amino acids that ketones in the urine
cannot be used correctly by people
A small number of people with MMA Over 90% of children with CblA
never show symptoms. deficiency respond to vitamin B12
injections. About 40% of children with
What is the treatment for MMA?
CblB deficiency are helped by this
Your babys primary doctor will work
treatment. Your doctors may need to
with a metabolic doctor and a dietician
treat your child with vitamin B12 for
familiar with MMA to care for your
short period of time to determine
child.
whether this treatment is useful.
Glucose is given by IV to prevent the Many vegetables and fruits have only
breakdown of protein and fat stored in small amounts of protein and can be
the body. eaten in carefully measured amounts.
Do not remove all protein from the diet.
Do not use any medication without
Children with MMA need a certain
checking with your doctor.
amount to grow properly.
When ill, your child needs extra fluids Children who respond to vitamin B12
and carbohydrates in order to prevent a treatment tend to do very well as long
metabolic crisis. During an illness, you as treatment is continued. Children
should restrict protein and give your who are not treated until after they
child starchy foods and fluids. Children have symptoms may have lasting
with MMA may need to be treated in health and learning problems.
the hospital during illness to avoid
Even with treatment, some children
serious health problems. Ask your
develop life-long learning disabilities or
metabolic doctor if you should carry a
mental retardation. In addition, despite
special travel letter with medical
treatment, seizures, involuntary
instructions for your childs care.
movement disorders, and kidney failure
6. Organ transplantation have occurred in some children.
Some children with MMA are given
What causes the enzyme to be absent
liver or kidney transplants, or both.
or not working correctly?
This may reduce some of the
Genes tell the body to make various
symptoms. However, transplant
enzymes. People with MMA have a pair
surgery has serious risks and may or
of genes that do not work correctly.
may not be right for your child. Talk
Because of these gene changes, an
with your doctor or metabolic specialist
enzyme needed by the body does not
if you have questions about the risks
work properly or is not made at all.
and benefits of transplantation.
Each of the parents brothers and about carrier testing, ask your genetic
sisters has a 50% chance to be an counselor or metabolic doctor.
MMA carrier. It is important for other
Where can Confirmatory Testing be
family members to be told that they
done for this condition?
could be carriers. There is a small
The confirmatory testing for the
chance they are also at risk to have
disorder is done after B12
children with MMA.
supplementation and serial urine
All states provide newborn screening MMA estimation by GC/MS.
for MMA. However, when both parents
Center
are MMA carriers, newborn screening
PreventiNe Lifecare Pvt. Ltd.
results are not sufficient to rule out the
RPT House, Plot No. 6, Sector 24,
condition in a newborn baby. In this
Turbhe, Navi Mumbai 400705
case, special diagnostic testing should
Ph: 022-61980000/11
be done in addition to newborn
screening. . How many people have MMA?
About one in 80,000 babies in the
Can other family members be tested?
United States is born with MMA.
Diagnostic testing
Does MMA happen more frequently
Brothers and sisters of a child with
in a certain ethnic group?
MMA can have special tests on blood,
MMA occurs in all ethnic groups
urine, or skin samples. Talk to your
around the world. It does not occur
doctor or genetic counselor if you have
more often in any specific race, ethnic
questions about testing for MMA.
group, geographical area, or country.
Carrier testing
Does MMA go by any other names?
If the gene changes have been
There are a number of different forms
identified in your child with MMA,
of MMA. The vitamin B12 non-
carrier testing can be done for other
family members. If you have questions
responsive forms are sometimes also CLIMB (Children Living with Inherited
called: Metabolic Disorders)
Methylmalonic aciduria due to http://www.climb.org.uk
methylmalonic CoA mutase
Save Babies Through Screening
deficiency
Foundation
Complementation group Mut
http://www.savebabies.org/
(includes Mut0 and Mut-)
Methylmalonyl CoA mutase
Genetic Alliance
deficiency
http://www.geneticalliance.org/
MCM Deficiency
M
Can other family members be
ethylmalonic
tested?
Acidemia with Where can Confirmatory Testing
be done for this condition?
Homocystinuri What is the cost of the
confirmatory test?
a
How many people have
MMA+HCU?
Disorder name: Methylmalonic
Does MMA+HCU happen more
Acidemia with Homocystinuria
often in a certain ethnic group?
Acronym: There is no standard
Does MMA+HCU go by any other
acronym for this condition.For this fact
names?
sheet we will use MMA+HCU
Where can I find more
What is MMA+HCU? information?
What causes MMA+HCU?
This fact sheet contains general
If MMA+HCU is not treated, what
information about methylmalonic
problems occur?
acidemia with homocystinuria
What is the treatment for
(MMA+HCU). Every child is different
MMA+HCU?
and some of these facts may not apply
What happens when MMA+HCU
to your child specifically. Certain
is treated?
treatments may be recommended for
What causes the enzyme to be
some children but not others. All
absent or not working correctly?
children with MMA+HCU should be
How is MMA+HCU inherited?
followed by a metabolic doctor in
Is genetic testing available?
addition to their primary care provider.
What other testing is available?
Can you test during pregnancy?
What is MMA+HCU?
Can other members of the family
MMA+HCU stands for methylmalonic
have MMA+HCU or be carriers?
acidemia with homocystinuria. It is
The symptoms and treatment vary into smaller parts called amino acids.
disorders. They can also vary from the amino acids so the body can use
person to person with the same them. In the same way, fat from the
organic acid disorder. See the fact food we eat is broken down into fatty
sheets for each specific organic acid acids that the body can use for energy.
disorder.
MMA+HCU occurs when one of these amounts are found in flour, cereal, and
special enzymes is either missing or some vegetables and fruits.
not working properly. The job of these
If MMA+HCU is not treated, what
enzymes is to change vitamin B12 (also
problems occur?
called cobalamin) into a form that the
Each child with MMA+HCU is likely to
body can use. When the body is not
have somewhat different effects:
able to use vitamin B12 correctly, it
causes homocystine, methylmalonic
Most babies with CblC
acid and other harmful substances to
deficiency have shown
build up in the blood. This can lead to
symptoms within the first year,
serious health problems.
often by one month of age. A
small number of children with
There are a number of forms of
CblC deficiency have not had
MMA+HCU. The most common form is
symptoms until after 4 years of
called Cobalamin C deficiency (CblC).
age. A small number of
Rarer forms include Cobalamin D
individuals have been reported
deficiency (CblD) and Cobalamin F
to have developed their first
deficiency (CblF).
symptoms in their teens or early
There are other forms of MMA that twenties.
occur without homocystinuria. These Babies with CblF deficiency
are described in a separate fact sheet - usually have their first
see MMA. symptoms shortly after birth.
Children with CblD deficiency
Isoleucine, valine, methionine, and
usually show initial symptoms
threonine are the four amino acids that
later in childhood.
cannot be used correctly by people
with MMA+HCU. They are found in all It is possible that a small number of
foods that contain protein. Large people with this condition never
amounts are found in meat, eggs, milk, develop symptoms.
and other dairy products. Smaller
Do not remove all protein from the diet. formula and other special medical
Children with MMA+HCU need a foods.
certain amount to grow properly.
2. Medication
Your dietician can create a food plan Vitamin B12
that contains the right amount of Babies and children with MMA+HCU
protein, nutrients, and energy to keep may be given vitamin B12 injections in
your child healthy. Your child will need the form of hydroxocobalamin (OH-
to be on a special food plan throughout cbl). This treatment seems to lessen the
life. symptoms in some children but not
others. Your doctor may need to treat
Medical formula and foods
your child with OH-cbl for a short
In addition to a low-protein diet, your
period of time to determine whether
child may be given a special formula.
this treatment is useful.
This formula contains the correct
amount of protein and nutrients needed L-Carnitine
for normal growth and development. Some children with MMA+HCU may
Your metabolic doctor and dietician benefit by taking L-carnitine. This is a
will tell you whether your child needs safe and natural substance that helps
formula, what type is best, and how the body make energy. It also helps get
much to use. rid of harmful wastes. Your doctor will
decide whether or not your child needs
There are also medical foods such as
L-carnitine. Unless you are advised
special low-protein flours, pastas, and
otherwise, use only L-carnitine
rice that are made especially for people
prescribed by your doctor.
with organic acid disorders. Your
dietician will tell you how to use these Betaine
foods as part of your childs diet. Betaine is a vitamin-like substance
found in grains and other foods. It can
Some states offer help with payment or
also be bought in pill form as a
require private insurance to pay for the
supplement. Betaine helps lower the
when your child has any of the Treatment may help some children but
following: not others. Even with treatment, some
loss of appetite babies and children may die. Others
vomiting may have life-long learning problems
diarrhea or mental retardation. Some children
infection or illness develop psychiatric disorders that are
fever difficult to treat.
When ill, your child needs extra fluids What causes the enzyme to be absent
and carbohydrates to prevent more or not working correctly?
serious health problems. During an Genes tell the body to make various
illness, you should restrict protein and enzymes. People with MMA+HCU have
give your child starchy foods and a pair of genes that do not work
fluids. correctly. Because of these gene
changes, the needed enzyme does not
Children with MMA+HCU may need to
work properly or is not made at all.
be treated in the hospital during
illness. Ask your metabolic doctor if How is MMA+HCU inherited?
you should carry a special travel letter
MMA+HCU is inherited in an
with medical instructions for your
autosomal recessive manner. It affects
childs care.
both boys and girls equally.
What happens when MMA+HCU is
treated?
works correctly. These children inherit available. Genetic testing, also called
one non-working gene for the condition DNA testing, looks for changes in the
DNA testing is not necessary to counselor can talk to you about your
diagnose your child. However, if choices and answer questions about
available, it can be helpful for carrier prenatal testing or testing your baby
testing or prenatal diagnosis, after birth.
discussed below.
Can other members of the family
What other testing is available? have MMA+HCU or be carriers?
Special tests on blood, urine, or skin
Having MMA+HCU
samples can be done to help confirm
If they are healthy and growing
MMA+HCU. Talk to your metabolic
normally, older brothers and sisters of
doctor or genetic counselor if you have
a baby with MMA+HCU are unlikely to
questions about testing for
have the condition. However, finding
MMA+HCU.
out if other children in the family have
Can you test during pregnancy? this condition may be important
If both gene changes have been found because early treatment may prevent
in your child with MMA+HCU, DNA serious health problems. Ask your
testing can be done during future metabolic doctor whether your other
pregnancies. The sample needed for children should be tested.
this test is obtained by either CVS or
MMA+HCU carriers
amniocentesis.
Brothers and sister who do not have
If DNA testing would not be helpful, MMA+HCU still have a chance to be
MMA+HCU can be detected by an carriers like their parents. Except in
enzyme test using cells from the fetus. special cases, carrier testing should
The sample needed for this test is only be done on people over 18 years.
obtained by CVS or amniocentesis.
Each of the parents brothers and
Parents may either choose to having sisters has a 50% chance to be a
testing during pregnancy or wait until carrier. It is important for other family
birth to have the baby tested. A genetic members to be told that they could be
diagnostic testing should be done in RPT House, Plot No. 6, Sector 24,
Combined deficiency of
methylmalonyl CoA mutase and
homocystinuria
Methyltetrahydrofolate
methyltransferase deficiency
Vitamin B12 metabolic defect,
Type 2
Methylmalonic acidemia and
homocystinuria
Cbl C deficiency
Cbl D deficiency
Cbl F deficiency
Genetic Alliance
http://www.geneticalliance.org/
P
Where can Confirmatory Testing
ropionic
Foods high in protein that may need to and dietician will tell you what type of
be avoided or limited include: formula is best and how much to use.
milk and dairy products
There are also medical foods such as
meat and poultry
special low protein flours, pastas, and
fish
rice that are made especially for people
eggs
with organic acid disorders. Your
dried beans and legumes
dietician will tell you how to use these
nuts and peanut butter
foods as part of your childs diet. Some
Many vegetables and fruits have only states offer help with payment, or
small amounts of protein and can be require private insurance to pay for the
eaten in carefully measured amounts. formula and other special medical
Do not remove all protein from the diet. foods.
Children with PA need a certain
2. Avoid going a long time
amount of protein to grow properly.
without food
Your dietician will create a food plan Infants and young children with PA
that contains the right amount of need to eat frequently to prevent a
protein, nutrients, and energy to keep metabolic crisis. Your metabolic doctor
your child healthy. Your child will need will tell you how often your child needs
to be on a special food plan throughout to be fed. In general, it is often
his or her life. suggested that infants be fed every four
to six hours. Some babies need to eat
Medical formula and foods
even more frequently than this. It is
In addition to a low-protein diet, your
important that infants be fed during the
child may be given a special medical
night. They may need to be woken up
formula. This formula contains the
to eat if they do not wake up on their
correct amount of protein and nutrients
own. Your metabolic doctor and
needed for normal growth and
dietician will give you an appropriate
development. Your metabolic doctor
feeding plan for your infant. Your
doctor will also give you a sick day proven to help in PA. But, your doctor
plan, tailored to your childs needs, for may talk with you about trying this
you to follow during illnesses or other supplement to see if it is of benefit to
times when your child will not eat. your child.
Your metabolic doctor will continue to Children who are having symptoms of
advise you on how often your child a metabolic crisis should be treated in
should eat as he or she gets older. the hospital. During a metabolic crisis,
your child may be given medications
3. Medication
such as bicarbonate by IV to help
Children with PA may benefit by taking
reduce the acid levels in the blood.
L-carnitine. This is a safe and natural
Glucose is often given by IV to prevent
substance that helps the body make
the breakdown of protein and fat stored
energy. It also helps get rid of harmful
in the body.
wastes. L-carnitine is part of the usual
treatment for PA. Your doctor will tell Do not use any medication or
you how much your child needs. supplement without first checking with
Unless you are advised otherwise, use your doctor or metabolic doctor.
only L-carnitine prescribed by your
4. Regular blood and urine tests
doctor.
Tracking of ketones
Certain antibiotics, taken by mouth, Your child will have periodic urine
can help reduce the amount of tests to check the level of ketones.
propionic acid in the intestines. Your These can be done at home or at the
doctor will decide if your child needs doctors office. Ketones are substances
antibiotics and, if so, what type. formed when body fat is broken down
for energy. This can happen after going
Some children may be given biotin
without food for long periods of time,
supplements by mouth. Biotin is a type
as the result of an illness, or during
of B vitamin that helps the body make
periods of heavy exercise. Ketones in
energy from food. Biotin has not been
the urine may signal the start of a metabolic crisis. In addition, they
metabolic crisis. should avoid eating protein during any
illness.
What happens when PA is treated? Everyone has a pair of genes that make
Babies who have prompt and ongoing the PCC enzyme. In children with PA,
treatment before they have a metabolic neither of these genes works correctly.
crisis may have normal growth and These children inherit one non-working
development. In general, the earlier gene for the condition from each
treatment is started, the better the parent.
outcome.
Parents of children with PA rarely have
Even with treatment, some children the disorder themselves. Instead, each
have life-long learning problems or parent has a single non-working gene
mental retardation. Seizures or for PA. They are called carriers.
problems with involuntary movements Carriers do not have PA because the
also occur in some children, despite other gene of this pair is working
treatment. Children with PA often have correctly.
more infections than usual. These need
When both parents are carriers, there
to be treated promptly to avoid a
is a 25% chance in each pregnancy for
metabolic crisis.
the child to have PA. There is a 50%
What causes the PCC enzyme to be chance for the child to be a carrier, just
absent or not working correctly? like the parents. And, there is a 25%
Genes tell the body to make various chance for the child to have two
enzymes. People with PA have a pair of working genes.
genes that do not work correctly.
Because of these gene changes, the
PCC enzyme does not work properly or
is not made at all.
counselor can talk to you about your are also at risk to have children with
choices and answer questions about PA.
prenatal testing or testing your baby
All states offer newborn screening for
after birth.
PA. However, when both parents are
Can other members of the family PA carriers, newborn screening results
have PA or be carriers? are not sufficient to rule out the
condition in a newborn baby. In this
Having PA
case, special diagnostic testing should
Older brothers and sisters of a baby
be done in addition to newborn
with PA, if they are healthy and
screening.
growing normally, are unlikely to have
the condition. However, finding out if Can other family members be tested?
other children in the family have this
Diagnostic testing
condition may be important because
Brothers and sisters of a child with PA
treatment can prevent serious health
can have special tests on blood, urine
problems. Ask your metabolic doctor or
or skin samples. Talk to your doctor or
genetic counselor whether your other
genetic counselor if you have questions
children should be tested.
about testing for PA.
PA carriers
Carrier testing
Brothers and sister who do not have
Carrier testing for PA may be available.
PA still have a chance to be carriers
If you have questions about carrier
like their parents. Except in special
testing, ask your genetic counselor or
cases, carrier testing should only be
metabolic doctor.
done on people over 18 years of age.
Each of the parents brothers and
Where can Confirmatory Testing be
sisters has a 50% chance to be a PA
done for this condition?
carrier. It is important for other family
members to be told that they could be The confirmatory test for the
carriers. There is a small chance they diagnosis is done by Gas
Genetic Alliance
http://www.geneticalliance.org/
3 -Methylcrotonyl
CoA Carboxylase
Where can Confirmatory Testing
be done for this condition?
What is the cost of the
Deficiency confirmatory test?
Disorder name: 3-methylcrotonyl How many people have 3MCC
CoA carboxylase deficiency deficiency?
Acronym: 3MCC deficiency Does 3MCC deficiency happen
more often in a certain ethnic
What is 3MCC deficiency?
group?
What causes 3MCC deficiency?
Does 3MCC deficiency go by any
If 3MCC deficiency is not treated,
other names?
what problems occur?
Where can I find more
What is the treatment for 3MCC
information?
deficiency?
What happens when 3MCC This fact sheet has general information
deficiency is treated? about 3MCC deficiency. Every child is
What causes the 3MCC enzyme to different and some of these facts may
be absent or not working not apply to your child specifically.
correctly? Certain treatments may be
How is 3MCC deficiency recommended for some children but
inherited? not others. Children with 3MCC
Is genetic testing available? deficiency should be followed by a
What other testing is available? metabolic doctor in addition to their
Can you test during pregnancy? primary doctor.
Can other members of the family
What is 3MCC deficiency?
have 3MCC deficiency or be
3MCC deficiency is one type of organic
carriers?
acid disorder. Some children with this
Can other family members be
condition have problems breaking
tested?
damage. This can lead to life-long Some people do not have any
learning problems or mental symptoms until adulthood. Some of the
retardation. symptoms seen in adults are:
weakness
Episodes of metabolic crisis can be
fatigue
triggered by:
Some people with 3MCC deficiency
illness or infection
never have symptoms and are only
going without food for long
found to be affected after a brother or
periods of time
sister is diagnosed, or they may be
eating large amounts of protein
diagnosed through newborn screening.
decide whether or not your child needs metabolic crisis. They should also
L-carnitine. Unless you are advised avoid eating protein during any illness.
otherwise, use only L-carnitine
Children who are ill often dont want to
prescribed by your doctor.
eat. If they cant eat, or if they show
Your doctor may suggest other signs of a metabolic crisis, they may
medications or supplements that may need to be treated in the hospital. Ask
be helpful in preventing some of the your metabolic doctor if you should
symptoms of 3MCC deficiency. Do not carry a special travel letter with
use any medication without checking medical instructions for your childs
with your doctor. care.
3. Call your doctor at the start of any What happens when 3MCC
illness deficiency is treated?
In some children, even minor illnesses Many children found to have 3MCC
such as a cold or the flu can lead to a during newborn screening will never
metabolic crisis. In order to prevent need treatment.
problems, you may be told to call your
With prompt and careful treatment,
doctor right away when your child has
children who have shown symptoms of
any of the following:
3MCC deficiency have a good chance
loss of appetite
to live healthy lives with typical growth
vomiting
and development.
diarrhea
infection or illness
Even with treatment, some children
fever still have repeated bouts of metabolic
crisis. This can cause brain damage
Some children need to eat more
and may lead to life-long learning
carbohydrates and drink more fluids
problems or mental retardation.
when they are ill even if theyre not
hungry or they could have a
What causes the 3MCC enzyme to be When both parents are carriers, there
absent or not working correctly? is a 25% chance in each pregnancy for
Genes tell the body to make various the child to have 3MCC deficiency.
enzymes. People with 3MCC deficiency There is a 50% chance for the child to
have a pair of genes that do not work be a carrier, just like the parents. And,
correctly. Because of the changes in there is a 25% chance for the child to
this pair of genes, the 3MCC enzyme have two working genes.
either does not work properly or is not
made at all.
future pregnancies, and how to test this test is obtained by either CVS or
other family members. Ask your doctor amniocentesis.
about a referral to a genetic counselor.
It may also be possible to test for
Is genetic testing available? 3MCC deficiency using an enzyme test
Genetic testing for 3MCC deficiency on cells from the fetus. The sample
can be done on a blood sample. needed for this test is obtained by
Genetic testing, also called DNA either CVS or amniocentesis.
testing, looks for changes in the pair of
Parents may choose to have testing
genes that causes 3MCC deficiency.
during pregnancy or wait until birth to
Talk with your genetic counselor or
have the baby tested. A genetic
metabolic doctor if you have questions
counselor can talk to you about your
about DNA testing.
choices and answer questions about
DNA testing is not necessary to prenatal testing or testing your baby
diagnose your child. However, it can be after birth.
helpful for carrier testing or prenatal
Can other members of the family
diagnosis, discussed below.
have 3MCC deficiency or be carriers?
What other testing is available?
Having 3MCC deficiency
Special tests on blood, urine or skin
The brothers and sisters of a baby with
samples can be done to confirm 3MCC
3MCC deficiency have a chance of
deficiency. Talk to your metabolic
being affected even if they havent had
doctor if you have questions about
symptoms. Finding out whether other
testing for this condition.
children in the family have this
Can you test during pregnancy? condition may be important because
If both gene changes have been found early treatment may prevent serious
in the child with 3MCC deficiency, health problems. Ask your metabolic
DNA testing can be done during future doctor whether your other children
pregnancies. The sample needed for should be tested.
3-methylcrotonylglycinuria
Methylcrotonyl-CoA carboxylase
deficiency
case, your babys primary doctor may you an appropriate feeding plan for
work with a metabolic doctor and a your infant. Your doctor will also give
dietician to care for your child. you a sick day plan tailored to your
childs needs for you to follow during
Prompt treatment may be needed to
illnesses or other times when your
prevent metabolic crises and the health
child will not eat.
effects that follow. Certain treatments
may be advised for some children but 2. Low-protein diet, including
not others. Your doctor and metabolic medical foods and formula
doctor will decide whether your child A food plan low in protein is sometimes
needs treatment. advised. Most food in the diet will be
carbohydrates (bread, cereal, pasta,
The following are treatments
fruit, vegetables, etc.). Carbohydrates
recommended for some babies and
give the body many types of sugar that
children with 2MBCD deficiency:
can be used as energy. Eating a diet
high in carbohydrates and low in
1. Avoid going a long time without
protein can help prevent hypoglycemia
food
and metabolic crises.
Some infants and young children with
2MBCD deficiency need to eat
Foods high in protein that may need to
frequently to prevent a metabolic crisis.
be avoided or limited include:
Your metabolic doctor will tell you how
milk and dairy products
often your child needs to be fed. In
meat and poultry
general, it is often suggested that
fish
infants be fed every four to six hours.
eggs
Some babies need to eat even more
dried beans and legumes
frequently than this. It is important that
nuts and peanut butter
infants be fed during the night. They
may need to be woken up to eat if they Many vegetables and fruits have only
do not wake up on their own. Your small amounts of protein and can be
metabolic doctor and dietician will give eaten in carefully measured amounts. It
is important not to remove all protein Some children may benefit by taking L-
from the diet. Children with 2MBCD carnitine. This is a safe and natural
deficiency need a certain amount of substance that helps body cells make
protein to grow properly. energy. It also helps the body get rid of
harmful wastes. Your doctor will
If needed, your dietician will create a
decide whether or not your child needs
food plan that contains the right
L-carnitine. Unless you are advised
amount of protein, nutrients, and
otherwise, use only L-carnitine
energy for your child. It is important to
prescribed by your doctor. Do not use
follow the advice of your dietician and
any medication without checking with
metabolic doctor.
your doctor.
metabolic crisis. They may also need to deficiency have a pair of genes that do
avoid eating protein during any illness. not work correctly. Because of the
changes in this pair of genes, the
Children who are ill often dont want to
2MBCD enzyme either does not work
eat. If they cant eat, or if they show
properly or is not made at all.
signs of a metabolic crisis, they may
need to be treated in the hospital. Ask How is 2MBCD deficiency inherited?
your metabolic doctor if you should 2MBCD deficiency is inherited in an
carry a special travel letter with autosomal recessive It affects both
medical instructions for your childs boys and girls equally.
care.
Everyone has a pair of genes that make
What happens when 2MBCD the 2MBCD enzyme. In children with
deficiency is treated? 2MBCD deficiency, neither of these
With prompt and careful treatment, genes works correctly. These children
children with symptoms of 2MBCD inherit one non-working gene for the
deficiency have a good chance to live condition from each parent.
healthy lives with typical growth and
Parents of children with 2MBCD
development.
deficiency rarely have the disorder.
Despite treatment, some children may Instead, each parent has a single non-
have repeated bouts of hypoglycemia working gene for 2MBCD deficiency.
or metabolic crises. This can cause They are called carriers. Carriers do
brain damage and may lead to life-long not have the condition because the
learning problems or mental other gene of this pair is working
retardation. correctly.
What causes the 2MBCD enzyme to When both parents are carriers, there
be absent or not working correctly? is a 25% chance in each pregnancy for
Genes tell the body to make various the child to have 2MBCD deficiency.
enzymes. People with 2MBCD There is a 50% chance for the child to
Genetic counselors can answer your DNA testing can be done during future
questions about how the condition is pregnancies. The sample needed for
inherited, choices during future this test is obtained by either CVS or
pregnancies, and how to test other family amniocentesis.
members. Ask your doctor about a referral
to a genetic counselor. An enzyme test using cells from the
fetus can also be done. The samples
Is genetic testing available?
needed for this test are obtained by
Genetic testing for 2MBCD deficiency
either CVS or amniocentesis.
is available. Genetic testing, also called
Parents may choose to have testing only be done in people over 18 years of
during pregnancy or wait until birth to age.
have the baby tested. A genetic
Each of the parents brothers and
counselor can talk to you about your
sisters has a 50% chance to be a
choices and answer questions about
carrier. It is important for other family
prenatal testing or testing your baby
members to be told that they could be
after birth.
carriers. There is a small chance they
Can other members of the family are also at risk to have children with
have 2MBCD deficiency or be 2MBCD deficiency.
carriers?
Some states do not provide newborn
Having 2MBCD deficiency screening for 2MBCD deficiency.
The brothers and sisters of a baby with However, expanded newborn screening
2MBCD deficiency have a chance of through private labs is available for
being affected, even if they havent had babies born in states that do not screen
symptoms. Finding out whether other for this condition.
children in the family have the
condition may be important. Early When both parents are carriers,
treatment may prevent serious health newborn screening results are not
sufficient to rule out the condition in a
problems. Talk to your metabolic
newborn baby. In this case, special
doctor or genetic counselor about
diagnostic testing should be done in
whether your other children should be
tested. addition to newborn screening.
Carrier testing
If both gene changes have been found
Academic Medical Center
in the child with 2MBCD deficiency, Laboratory Genetic Metabolic
other family members can have DNA Diseases (F0-132)
testing to see if they are carriers. Meibergdreef 9
1105 AZ Amsterdam
If DNA testing is not possible or is not
The Netherlands
helpful, other methods of carrier testing
Ph: +31 20 5662026 / 5393, E-mail:
may be available. Your metabolic
gmz_enzym@amc.nl
doctor or genetic counselor can answer
your questions about carrier testing.
What is the cost of the confirmatory
test?
Where can Confirmatory Testing be
done for this condition? 680 (+ 150 for fibroblast culturing
from skin biopsy)
The confirmatory test for the
diagnosis is done by Gas How many people have 2MBCD
Chromatography Mass Spectrometry
deficiency?
(GC/MS) using urine sample Or by
estimation of 2-Methylbutyryl-CoA 2MBCD deficiency is very rare. The
Genetic Alliance
http://www.geneticalliance.org
A
How many people have alpha
lpha Thalassemia
thalassemia?
Does alpha thalassemia happen
more often in a certain ethnic
Disorder Name: Alpha Thalassemia
group?
Acronym: thal
Does alpha thalassemia go by any
What is alpha thalassemia? other names?
What causes alpha thalassemia? Where can I find more
thalassemia experience anemia, or low carries oxygen from the lungs to the
levels of hemoglobin. Taking iron rest of the body. Hemoglobin is made
supplements to treat the anemia caused up of two components, called alpha
by alpha thalassemia will not improve globin and beta globin. Both of these
symptoms and is discouraged. components are needed for hemoglobin
to do its job efficiently. When a person
There are several types of alpha
does not produce enough alpha globin,
thalassemia. Ranging from mild to
they have alpha thalassemia. Having
severe, the types of alpha thalassemia
too little alpha globin makes the cells
are:
smaller than normal. People with the
1. Silent carrier
milder types of alpha thalassemia
2. Alpha thalassemia trait
produce more alpha globin than people
3. Hemoglobin H
with the more severe types, leading to
4. Alpha thalassemia major
milder symptoms.
hemoglobin H have other sure that their family doctor knows that
complications, including gallstones their child has alpha thalassemia.
and a larger than expected spleen.
Iron supplements will not improve
Therefore, these children are followed
anemia caused by alpha thalassemia. If
more closely by their doctor. It is
your doctor thinks that your child
recommended that they see a
should take iron supplements, a blood
hematologist, or blood specialist,
test called ferritin should first be
yearly.
checked. Taking unneeded iron
Alpha thalassemia major supplements can cause damage to the
Most babies with alpha thalassemia body.
major do not survive until birth or are
Silent carrier and alpha thalassemia
stillborn. In the rare cases of babies
trait
that do survive, they require frequent
Children with mild alpha thalassemia
blood transfusions and medical care.
do not require any treatment. However,
Alpha thalassemia major can be
they may have a chance of having a
detected on ultrasound in the second-
child with more severe alpha
third trimester of pregnancy. A
thalassemia. When your child reaches
hallmark ultrasound finding that
an appropriate age, it is important to let
indicates that a baby may have alpha
him or her know that he or she can
thalassemia major is hydrops fetalis,
pass alpha thalassemia on to their
an accumulation of fluid in the baby.
children.
What is the treatment for alpha
Hemoglobin H
thalassemia?
Children with hemoglobin H should
The type of treatment that a child
have regular medical care to detect and
needs depends on the type of alpha
treat any symptoms that may occur. It
thalassemia that he or she has. It is
is recommended that they see the
very important that the parents make
hematologist yearly. Some children
with hemoglobin H may need blood
Can other members of the family blood after six months of age of the
have alpha thalassemia or be patient.
carriers?
Center:
The brothers and sisters of a child with
PreventiNe Lifecare Pvt. Ltd.
alpha thalassemia may also have alpha
RPT House, Plot No. 6, Sector 24,
thalassemia, even if a parent has not
Turbhe, Navi Mumbai 400705
noticed any symptoms. Talk to your
Ph: 022-61980000/11
doctor or genetic counselor about
testing your other children for alpha
How many people have alpha
thalassemia.
thalassemia?
Alpha thalassemia is one of the most
Each of the parents brothers and
common genetic conditions. Because it
sisters also has a chance to have alpha
can be very mild, the number of people
thalassemia. It is important to talk to
who have alpha thalassemia is
other family members about their risk
unknown.
of having alpha thalassemia.
C
Does CAH happen more often in a
ongenital Adrenal
What other testing is available? for about 95% of all cases of CAH. The
Can you test during pregnancy? other causes of CAH are not covered in
Can other members of the family this fact sheet but are listed at the end.
for adrenal crises when they become ill look like a small penis. Baby girls may
or are under stress. The body needs also have labia which are fused
more than the usual amount of adrenal together, may be wrinkled and may
hormones during illness, injury or look more like a male scrotum. Some
stress. This means a child with CAH baby girls have fewer genital changes
must be given more medication during than others. The high level of
these times to prevent an adrenal androgen hormones does not affect the
crisis. uterus and ovaries, which develop
normally.
All babies with salt-wasting CAH have
the other features of classic CAH listed Girls who are not treated may develop
below. Girls with salt-wasting CAH other male-like traits and behaviors as
usually have more male-like changes to they grow. Some of these changes may
their genitals than girls with simple include:
virilizing CAH. Deep, husky voice
Excess hair on the face and body
Classic CAH Simple virilizing form
Lack of menstrual periods or
About 25% of babies with CAH have
scanty or irregular periods
the simple virilizing form. The adrenal
Early puberty changes such as
glands make enough aldosterone but
hair in the armpits and pubic
not enough cortisol; they also make too
area
much androgen.
Severe acne
Male-pattern baldness (loss of
Classic CAH starts its effects before
hair near the temples)
birth. Excess androgen hormones are
made by the fetus. This causes the
Boys who are not treated may have
genitals of female fetuses to develop
some of the following traits:
male-like features. Baby girls born
Muscle growth at an early age
with classic CAH often have an
Pubic hair and underarm hair
enlarged clitoris. In some girls this is
during childhood
not very noticeable, but in others it may
Enlargement of the penis during or stress, they are at risk for health
childhood problems.
Early deepening of the voice
Nonclassic CAH / Late-onset CAH
Early beard
Nonclassic CAH, also called late-
Smaller than normal testicles
onset, usually causes milder effects
Severe acne
than classic CAH. However, symptoms
Sometimes the changes of early can be quite variable from person to
puberty happen in boys and girls as person. Many people with nonclassic
young as two to four years old. Both CAH often start showing signs during
boys and girls may have rapid growth childhood, adolescence, or early
during childhood but end up being adulthood. Some people never develop
short as adults. Excess androgen symptoms. Newborn screening can
hormones in childhood cause the rapid detect some, though not all, babies
growth. The androgens also cause with the nonclassic form of CAH.
shorter adult height by closing the
Babies with nonclassic CAH are
growth plates too soon.
usually healthy at birth and their
Some untreated adults also have genitals are normal in appearance.
problems with infertility and may have They do not have salt-wasting and are
difficulty achieving pregnancy. not at risk for adrenal crises.
Children with simple virilizing CAH are Children and adults with nonclassic
at risk for adrenal crises, though CAH have adrenal glands that make
typically less severe than seen in near-normal amounts of cortisol and
children with the salt-wasting form. normal amounts of aldosterone.
Acute illness or stress increases the However, they have too much 17-OH
bodys need for cortisol. If children progesterone (17-OHP), a chemical
with CAH do not receive increased used to make cortisol, in their blood.
amounts of medication during illness They also may make too much of the
androgen hormones.
Some of the traits that are sometimes Your babys primary doctor may work
seen in both males and females with with a pediatric endocrinologist to
nonclassic CAH include: provide medical care to your child. It is
important for babies with classic CAH
Rapid growth in childhood and
to be diagnosed as quickly as possible.
early teens with short adult
This allows treatment to begin soon
height
after birth which helps reduce the
Severe acne
effects of CAH.
Early puberty with development
of pubic hair, underarm hair and The main treatment for classic CAH is
body odor during childhood a drug called hydrocortisone (also
Excess hair on the face and called cortisone), taken in pill form.
other parts of the body This medication replaces the cortisol
Male-pattern baldness (hair loss that your baby cannot make on his or
near the temples) her own. It must be taken daily
throughout life to prevent effects of
Girls and women may have:
CAH. Cortisone is sometimes given in
Male-like changes in physical
other drug form, such as prednisone or
appearance and behavior
dexamethasone.
Irregular menstrual periods or
early-onset of periods Treatment for Classic CAH both
Infertility simple virilizing and salt-wasting
Polycystic ovary syndrome forms:
prevents early puberty, and allows for doctor when your child is ill, injured, or
more typical growth and development. requires surgery. If your child is ill and
Your doctor will follow your childs cannot take the pills, cortisone
growth, pubertal development, blood injections may be necessary.
pressure, and hormone levels
Your doctor may advise you to carry an
throughout childhood. The level of
emergency treatment letter with steps
medication needed to control
for your childs care during stress or
symptoms will be adjusted as needed
illness. Children with CAH should also
throughout your childs life.
consider wearing a Medic-Alert
It is important to always follow your bracelet.
doctor's orders on how much cortisone
Hydrocortisone must be taken
to give your child. Too much cortisone
throughout life to prevent CAH effects.
can cause temporary symptoms of
If the medication is stopped, symptoms
Cushing syndrome so the dose must be
will develop.
carefully balanced to your childs
height, weight and activity level. Signs Surgery for girls with classic CAH
of Cushing syndrome include: stretch
Girls who are born with an enlarged
marks on the skin, rounded face,
clitoris or changes to the labia have the
weight gain, high blood pressure, and option of surgery to change their outer
bone loss. genitals to a more female appearance.
Some women who have CAH have not
In addition, your doctor will give you
had surgery and are happy they did
instructions for increasing the dose of
not. Others are glad their parents
hydrocortisone during an acute illness.
decided to give them the surgery. This
If you have questions about dosing,
is a complex decision made by the
call your doctor. The body needs more
parents with guidance from their
cortisol during illness, injury or times
doctors. Parents who are not sure
of stress. Therefore, the cortisone
about surgery may want to talk with
dosage must be increased by your
other families who have faced similar Treatment for early puberty
decisions. Children who show changes of puberty
at a young age are sometimes treated
If you choose corrective surgery, it can
with medications that lower the amount
be done as early as age one to three.
of androgen hormones. Your doctor
Surgery on the clitoris usually hides
will talk to you about these medications
the excess tissue but leaves the clitoris
should your child start showing signs
itself intact. Surgery to separate the
of puberty during childhood.
labia and to create a normal vagina is
often delayed until the teenage years. Additional treatment for classic CAH
Ask your doctor about the risks and salt-wasting form
benefits of surgery for these changes Children with salt-wasting CAH need
and the best time to do these to take an additional medication called
surgeries. Florinef. Florinef (9a-
fludrohydrocortisone) is a salt-
Treatment to prevent short stature
retaining drug that replaces the
Your doctor may take periodic X-rays
aldosterone absent in children with
to check your childs bone age. This
salt-wasting CAH. It is given by mouth
allows your doctor to tell whether your
in pill form.
child is growing at too rapid a rate. It
also shows whether the growth plates Some children with salt-wasting CAH
are still open or whether they are need to follow a food plan that contains
closing too early. more salt than usual. In addition, your
doctor may recommend salt tablets to
Specific medications may help increase
prevent dehydration. It is important to
height in children and teens that show
follow your doctors instructions on
signs of early growth failure. Certain
how much salt to feed your child. Most
medications lower androgen levels. If
children on medication do not need to
you have questions about your childs
add extra salt to their diets.
growth, talk to your doctor about the
costs and benefits of these treatments. Treatment for nonclassic CAH
Some people with nonclassic CAH do Children with salt-wasting CAH who
not need treatment and may go through remain on treatment usually do not
life without symptoms. Others begin have further salt-wasting adrenal crises
having symptoms in childhood, or other associated health problems.
adolescence or young adulthood and
Pregnant women with classic salt-
may need medication in the form of
wasting CAH should be followed
cortisone pills. Symptoms that may
carefully by an endocrinologist during
signal the need for treatment include:
pregnancy. Medications may need to
Severe acne
be increased during pregnancy to
Excess body hair
prevent problems with fetal growth.
Irregular menstrual periods
Lumps in the testicles What causes the21-hydroxylase
Infertility
enzyme to be absent or not working
correctly?
Children and adults with nonclassic
CAH usually need less medication than Genes tell the body to make various
children with classic CAH. enzymes. People with CAH have a pair
of genes that do not work correctly.
What happens when CAH is treated?
Because of the changes in this pair of
Children with CAH who start treatment
genes, the 21-OH enzyme either does
soon after birth usually have normal
not work properly or is not made at all.
growth and development. In most
treated children, puberty occurs at the
How is CAH deficiency inherited?
normal age, although some still have
CAH is inherited in an autosomal
early changes. Even when treated, recessive manner. It affects both boys
some adults are shorter than average. and girls equally.
DNA testing is not always necessary to Parents may choose to have testing
diagnose your child but it can during pregnancy or wait until birth to
sometimes be helpful in determining have the baby tested. A genetic
whether your child has classic or counselor can talk to you about your
nonclassic CAH. It can also be helpful choices and answer questions about
for carrier or prenatal testing, prenatal testing or testing your baby
discussed below. after birth.
genetic counselor if you have questions have the condition, your other children
about your other children. can be tested. Talk to your doctor or
genetic counselor if you have questions
CAH carriers
about testing for CAH.
Brothers and sisters who do not have
CAH still have a 2/3rds chance to be
Carrier testing
carriers like their parents. Except in
If both gene changes have been found
special cases, carrier testing should
in your child, other family members
only be done in people over 18 years of
can have DNA testing to see if they are
age.
carriers.
About one in every 15,000 babies in the The nonclassic form of CAH is
United States is born with classic sometimes also called:
CAH. Attenuated CAH
Late-Onset CAH
Does CAH happen more frequently in
a certain ethnic group? Some less common causes of CAH not
CAH occurs in people of all ethnic discussed in this fact sheet are:
groups around the world. It is more Steroidogenic acute regulatory
common in the Yupik Eskimos; about 1 protein deficiency (STAR)
in 300 babies in this population is born 3-beta-hydroxysteroid
with CAH. It is less common in dehydrogenase deficiency (3B-
African-American and Asian people. HSD)
17-alpha-hydroxylase deficiency
Nonclassic CAH may occur in up to 1
11-beta-hydroxylase deficiency
in every 100 people. It appears to
Cytochrome P450
happen more often in people of
oxidoreductase deficiency
Ashkenazi Jewish, Hispanic, Slavic
and Italian background. Where can I find more information?
Being told your child has CAH can be a
Does CAH go by any other names?
very stressful experience for the whole
your feelings and concerns and may be National Library of Medicine Genetics
able to connect you with other parents Home Reference (CAH)
who have children with CAH. Some of http://ghr.nlm.nih.gov/condition=21hyd
these support networks and roxylasedeficiency
organizations are listed below.
Genetic Alliance
CARES (Congenital Adrenal http://www.geneticalliance.org
Hyperplasia Research, Education and
Support) Foundation, Inc.
http://www.caresfoundation.org/produc
tcart/pc/index.html
C
Does CF happen more often in a
ystic Fibrosis
In people with CF, the thickened mucus absorbed. This often leads to poor
that lines the lungs and bronchioles growth and poor weight gain. It can
can lead to repeated lung infections. In also cause sluggishness and anemia.
people who do not have CF, thin Because fat is not absorbed well, it
slippery mucus normally lines the nose ends up in the stools and causes them
and the tubes leading to the lungs. to be bulky, lighter in color and have a
This mucus has the job of picking up stronger odor.
bacteria, viruses and dirt from the air
What causes CF?
we breathe and moving them up and
CF is an inherited condition that occurs
out of the lungs. The thick, sticky
when a particular cell protein is either
mucus found in people with CF can no
missing or not working well. This
longer do this job well. CF also
protein is called cystic fibrosis
reduces the immune cells ability to
transmembrane conductance regulator
fight infections. People with CF
(CFTR). CFTR is normally made by
develop chronic coughing and
the body and is not something we get
recurrent lung infections.
by eating. One of CFTRs jobs is to let
In addition to lung problems, many chloride (a molecule found in salt) in
children with CF also have 'pancreatic and out of the cells of the body.
insufficiency. The pancreas is an Researchers are still trying to find out
organ behind the stomach. One of its more about why of the lack of CFTR
jobs is to make special digestive causes the health problems seen in
enzymes that break down the food we people with CF.
eat into nutrients small enough to get
CF is not contagious. You cannot get
into the blood. If the pancreas is
CF from living with, touching, or
blocked, the enzymes cannot get to the
spending time with a person with CF.
small intestine to do their job. Without
digestive enzymes, food in the small
What are the symptoms of CF?
intestine cannot be broken down
CF is variable and causes minimal
properly and nutrients cannot be
effects in some people and more
serious health problems in others. by thick stool that gets stuck in the
Symptoms usually start in early intestines.
childhood. In fact, most children with
About 15% of children with CF have
CF show effects before one year of
lung effects but do not have problems
age. There are some people who do
with digestion. About 85% of children
not find out they have CF until
have problems with both lungs and
adulthood.
digestion. There are also some people
The first things parents often notice who have been diagnosed with CF
when a child has CF are: because of genetic test results, but who
Salty sweat; many parents have very few symptoms of CF.
notice a salty taste when kissing
Over time, people with CF can have
their child
chronic health issues such as:
Poor weight gain and growth,
Repeated bouts of bronchitis or
even when a baby or child eats a
pneumonias leading to
lot. This is sometimes called
permanent lung damage
failure to thrive (FTT)
Collapsed lung, bleeding from
Constant coughing or wheezing
the lungs, or lung failure
Thick mucus and phlegm
Poor growth and poor weight
Many lung and sinus infections
gain due to malnutrition
(pneumonias and bronchitis)
Chronic diarrhea
Greasy, smelly stools that are
Fatigue and anemia
bulky and pale colored
Males are usually sterile due to
Intestinal problems (diarrhea or
blocked or absent vas deferens
constipation, pain, gas)
(the tubes carrying the sperm
Polyps in the nose
from the testes to the penis).
About 15-20% of newborns with CF There are now techniques which
have a blockage of their intestines allow some men with CF to
called meconium ileus. This is caused father their own children.
you and your child. Some common sometimes occur in the lungs of
types of airway clearance therapy are: people with CF. There are many
types of antibiotics that may be
Chest percussive therapy:
used for people with CF. One
Some people with CF have a
type of inhaled antibiotic that is
parent or caregiver tap or clap
often used for CF treatment is
on their chest and back to break
called Tobramycin (TOBI).
up and move mucus. Some
Other medications may be
people use a handheld machine
suggested for children or adults
that causes vibrations on the
with liver disease, high blood
chest and back.
sugar levels, or bone thinning.
Therapy vest: Some people use
a special vest that vibrates to Do not use any medication without
break up the mucus. checking with your doctor.
You may be advised to see a doctor neither of these genes works correctly.
who specializes in caring for children These children inherit one non-working
with CF or to be seen at a CF treatment gene for the condition from each
center. These doctors can work with parent.
your regular pediatrician to ensure up-
Parents of children with CF rarely have
to-date treatment for your child.
the disorder. Instead, each parent has a
Although CF is a life-shortening single non-working gene for CF. They
condition, due to the recent discovery are called carriers. Carriers do not have
of better treatments more people with CF because the other gene of this pair
CF are living into adulthood and
leading healthier lives than in the past.
How is CF inherited?
CF is inherited in an autosomal
recessive manner. It affects both boys
and girls equally. is working correctly.
Everyone has a pair of genes that make When both parents are carriers, there
the CFTR protein. In children with CF, is a 25% chance in each pregnancy for
the child to have CF. There is a 50% on a babys heel is used to screen for a
chance for the child to be a carrier, just number of different genetic conditions.
like the parents. And, there is a 25% If a baby has a positive result on the
chance for the child to have two initial CF screen, it does not yet mean
working genes. that he or she has CF. Many babies
with a positive result on newborn
Genetic counseling is available to
screening for CF are later found not to
families who have children with CF.
have CF. However, a positive screening
Genetic counselors can answer your
test means that further testing must be
questions about how CF is inherited,
done to confirm or rule out this
choices during future pregnancies, and
condition.
how to test other family members. Ask
your doctor about a referral to a genetic Confirmatory testing:
counselor. The test used most often to confirm CF
is called a sweat chloride test. A
Is genetic testing available?
small amount of a substance that
Genetic testing for CF can be done
produces sweat is put onto a small
either on a blood sample or from a
section of a childs arm or leg. A tiny
cheek swab. Genetic testing, also
electrical current is used to make that
called DNA testing, looks for changes
part of the skin sweat. The sweat is
in the pair of genes that cause CF. In
collected and the amount of chloride is
most children with CF, both gene
measured. A high level of chloride in
changes can be found. However, in
the sweat confirms CF. However, this
other children, only one or neither of
test does not tell how mild or severe the
the two gene changes can be found,
condition will be.
even though we know they are present.
Sweat chloride tests are often done
What other testing is available?
after a baby is a few weeks old because
Newborn Screening
newborns often dont have enough
All states offer newborn screening for
sweat to do the test properly.
CF. A blood spot from a needle prick
Your child will likely have other prevent more serious health problems.
medical tests as part of his or her Talk to your doctor or genetic
routine care. These may include chest counselor about testing your other
X-rays and other tests to look at the children for CF.
lungs, along with blood and urine tests
CF Carriers
to make sure the pancreas and liver are
Brothers and sisters who do not have
working correctly.
CF still have a chance to be carriers
Can you test during pregnancy? like their parents. Except in special
If both gene changes have been found cases, carrier testing should only be
in your child with CF, DNA testing can done on people over 18 years of age.
be done during future pregnancies. The
Each of the parents brothers and
sample needed for this test is obtained
sisters has a 50% chance to be a CF
by either CVS or amniocentesis.
carrier. It is important for other family
Parents may either choose to have members to be told that they could be
testing during pregnancy or wait until carriers. There is a small chance they
birth to have the baby tested. A genetic are also at risk to have children with
counselor can talk to you about your CF.
choices and answer questions about
All states offer newborn screening for
prenatal testing or testing your baby
CF. However, when both parents are
after birth.
carriers, newborn screening results are
Can other members of the family not sufficient to rule out CF in a
have CF or be carriers? newborn baby. In this case, diagnostic
Having CF The brothers and sisters of testing should be done in addition to
a baby with CF also have a chance of newborn screening.
being affected, even if they have had no
Can other family members be tested?
symptoms. Finding out whether other
children in the family have CF is Diagnostic testing
important because early treatment may
If both gene changes have been found How many people have CF?
in your child with CF, brothers and About one in every 3200 white babies
sisters can be tested for CF using DNA in the United States is born with CF.
testing on a blood sample or a cheek CF is less common in children of other
swab. Other special tests, such as ethnic backgrounds. CF affects about
sweat chloride testing may also be one in 8000 Latino babies, one in
suggested. 15,000 African-American babies, and
less than one in 30,000 Asian babies.
Carrier testing
If both gene changes have been found Does CF happen more often in a
in your child with CF, other family certain ethnic group?
members can have DNA testing on a CF happens more often in white people
blood sample or cheek swab to see if from Northern Europe and the United
they are carriers. States but it can affect people of all
ethnic backgrounds. About one in
Where can Confirmatory Testing be
every 28 Caucasians in the United
done for this condition?
States is a CF carrier. In addition,
The confirmatory testing for the
about one in 46 Latinos, one in 65
disorder CFTR whole gene mutation
African-Americans, and one in 90
analysis using whole blood or
Asians is a CF carrier.
lymphocytes.
Does CF go by any other names?
Center
CF is also sometimes called:
Mayo Medical Laboratories
Mucoviscidosis
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Cystic fibrosis of pancreas
Rochester, MN 55901
Fibrocystic disease of pancreas
C
Does CH go by any other names?
ongenital
testing available?
The thyroid gland is a butterfly-shaped
What other testing is available?
organ at the base of the neck. Its job is
Can you test during pregnancy?
to make specific hormones that help
Can other members of the family
the cells of the body function correctly.
have CH?
The main hormone made by the thyroid
Where can Confirmatory Testing
gland is thyroid hormone, also called
be done for this condition?
thyroxine, or T4. It is released by the
What is the cost of the
thyroid gland into the bloodstream
confirmatory test?
whenever it is needed by the body. It
How many people have CH?
helps cells work more efficiently and
Does CH happen more often in a
also helps maintain our body
certain ethnic group?
temperature. In babies and young
children, thyroid hormone is crucial for or on the side of the neck. If the
normal growth and development of the thyroid gland is in the wrong place, or
body and brain. if it is underdeveloped, it often does not
work well and makes less thyroid
People with hypothyroidism have
hormone than needed by the body. If
specific symptoms and health issues.
the thyroid gland is missing, the baby
Babies who do not have enough
cannot make any of its own thyroid
thyroid hormone are often slow to
hormone. A missing, underdeveloped
grow, are sluggish, and have learning
or misplaced thyroid gland is a birth
delays and other specific health
defect that happens for unknown
problems. There are number of
reasons and is usually not inherited.
different causes for CH which are
mentioned below. Hereditary causes
Less often, CH is caused by inherited
What causes CH?
changes in a gene or pair of genes.
CH can be the result of a number of
This is explained in more detail below.
different underlying causes.
Children with the inherited type of CH
do not make enough thyroid hormone
Missing or misplaced thyroid gland
even though their thyroid gland
Most babies with CH are missing their
appears normal in size and shape.
thyroid gland or have a thyroid that did
About 15% of children with CH are
not develop properly. In some cases,
thought to have an inherited form.
the thyroid gland may be smaller than
usual or may not be located in the
Maternal iodine deficiency
correct place.
If the mother is deficient in iodine
during the pregnancy, the fetal thyroid
In healthy people, the thyroid gland is
gland may not be able to make enough
located in the center of the front of the
thyroid hormone. The baby is then
neck, near the top of the windpipe. In
born with CH. This is a problem in
some children with CH, the thyroid
some parts of the world where people
gland may instead be under the tongue
do not get enough iodine in their diet. If CH is not treated, what problems
This is a very rare cause for CH in the occur?
United States because our table salt is Most babies do not have symptoms
supplemented with iodine (iodized right away because they are protected
salt). Other foods, in particular dairy by their mothers thyroid hormone for a
products, contain iodine, as well. few weeks after birth. After about three
to four weeks of age babies must rely
Maternal thyroid condition and
solely on their own thyroid hormone. If
medications
they dont make enough, symptoms
In a small number of cases, CH occurs
will show up at that time. A small
when the mother is given anti-thyroid
number of babies with CH do show
drugs during pregnancy to treat her
effects at birth, however.
own thyroid problem.
Some babies have a yellow color to
their skin or the whites of their eyes.
This is called jaundice. Other signs
that may occur in early infancy include:
Large soft spot on the skull (the Your babys doctor may work with a
fontanel) that closes late pediatric endocrinologist, a doctor with
Large belly with protruding training in treating children with
navel (umbilical hernia) thyroid and other hormone problems,
to care for your child.
If left untreated, babies may develop
some or all of the following effects over The main treatment for CH is thyroid
time: hormone replacement. It is safe and
Coarse, swollen facial features easy to take. If it is begun immediately
Breathing problems after your child is diagnosed, treatment
Hoarse-sounding cry can prevent many or all of the effects of
Delayed milestones (sitting, CH. If damage to the brain and nerves
crawling, walking, talking) happens because treatment is delayed,
Wide, short hands it is usually permanent and cannot be
Poor weight gain and growth reversed.
Goiter (enlarged thyroid gland
causing a lump in the neck)
Anemia
1. Medication
Slow heart rate
L-thyroxine is a synthetic form of
Fluid build-up under the skin thyroid hormone (but its chemical
(called myxedema) structure is identical to that produced
Hearing loss by the normal thyroid gland). This is
given in tablet form to all babies with
Children who remain untreated usually
CH. Your doctor and endocrinologist
become mentally retarded and are
will decide how much L-thyroxine your
much shorter than average. They may
baby needs and how often. Your
have spasticity and an unsteady gait.
doctors will increase the amount of
Most have speech delays and some
medication as your child grows. L-
have behavior problems.
thyroxine needs to be taken on a daily
What is the treatment for CH? basis through your childs whole life.
L-thyroxine tablets are small and can thyroid as the dose of hormone is not
be crushed into food or dissolved into a consistent.
small amount of formula, juice or other
Soy-based formulas and iron
liquid. Do not dissolve them into a full
supplements can reduce the amount of
bottle or glass of liquid because your
thyroid hormone your baby absorbs
baby may not finish the whole bottle
from the pills. Separate the time you
and will not get the full dose of
administer your babys thyroid
medicine. Young children can easily
medication by at least one hour from
chew and swallow the pills. There is
the time you feed soy formula or iron
no approved liquid form of thyroid
medication. Tell your doctor if you feed
hormone.
your baby a soy-based formula or iron
It is important to give your child the supplements so the medication can be
correct amount of L-thyroxine. Giving monitored and increased if necessary.
your child more than he or she needs
2. Monitoring
can cause body functions to speed up.
Your child will need regular visits to
Some of the signs that occur when a
the doctor to check his or her weight,
child takes too much L-thyroxine are:
height, development and overall
Rapid heart rate
health. Your child will also likely need
Diarrhea
regular blood tests to check the level of
Lack of sleep
thyroid hormone. Blood tests are
Shakiness
usually done every one to three months
Synthetic L-thyroxine is the safest form until age one, and then every two to
of medication to use. In the past, four months until age three. They can
before synthetic forms were available, usually be done less often after age
children were treated with dried thyroid three.
hormone from pooled animal tissue.
3. Developmental Evaluation
This is called dessicated thyroid and
Your doctor may suggest a formal
is still available. Do not use dessicated
evaluation of your childs
development. If your child show delays In about 15% of cases of CH, the
in certain areas of learning or speech, thyroid gland appears normal but the
extra help can be arranged. Early amount of thyroid hormone made is
intervention programs are available in reduced. These cases are more likely
most states to provide services to to be inherited, but not always. If an
children before they reach school age. inherited form of CH is suspected, you
may be referred to a genetic doctor or
What happens when CH is treated?
genetic counselor to determine whether
Children with CH who start treatment
the CH is inherited.
soon after birth usually have normal
growth and intelligence and can live Most of the hereditary types of CH are
typical and healthy lives. Some inherited in an autosomal recessive
children, even when treated, have manner. This type of inheritance
problems with school work and may affects both boys and girls equally. In
need extra help. Some may have children with autosomal recessive CH,
delayed growth compared to other a specific pair of genes is not working
children their age. correctly and too little thyroid hormone
is made. These children inherit one
If treatment is not started until several
non-working gene for the condition
months after birth, delays or learning
from each parent. These children have
problems may occur. The level of delay
a normal appearing thyroid that is in
varies from child to child.
the correct place in the neck but does
not make enough thyroid hormone.
How do I know if my childs CH is
inherited?
Parents of children with autosomal
About 80 to 85% of the time, CH is
recessive CH rarely have the condition
caused when the thyroid gland does
themselves. Instead, each parent has a
not develop at all, is misplaced, or is
single non-working gene for CH. They
too small. Most of the time, these
are called carriers. Carriers do not have
cases are not thought to be caused by
inherited factors.
CH because the other gene of this pair inherited types of CH, your genetic
is working correctly. counselor or genetic doctor will explain
how it is inherited and who else in the
When both parents are carriers, there
family may have a chance to pass on
is a 25% chance in each pregnancy for
the gene for CH.
the child to have CH. There is a 50%
chance for the child to be a carrier, just Genetic counseling is available to
like the parents. And, there is a 25% families who have children with CH
chance for the child to have two that might be inherited. Genetic
working genes. counselors can answer your questions
about how the CH could be inherited in
your family, chances for CH in future
offspring. If you have questions, ask
your doctor for a referral to a genetic
counselor.
Genetic Alliance
http://www.geneticalliance.org
G
Where can Confirmatory Testing
lucose-6-
What causes the G6PD enzyme to not apply to your child specifically.
Mutations in the G6PD gene cause it is unlikely that females will have two
glucose-6-phosphate dehydrogenase altered copies of this gene, males are
deficiency. affected by X-linked recessive
The G6PD gene provides instructions disorders much more frequently than
for making an enzyme called glucose-6- females. A characteristic of X-linked
phosphate dehydrogenase. This inheritance is that fathers cannot pass
enzyme is involved in the normal X-linked traits to their sons.
processing of carbohydrates. It also
Is genetic testing available?
protects red blood cells from the effects
of potentially harmful molecules called
Genetic tests based on polymerase
reactive oxygen species.
chain reaction detect specific mutations
If mutations in the G6PD gene reduce and are used for population screening,
the amount of glucose-6-phosphate
family studies, or prenatal diagnosis.
dehydrogenase or alter its structure,
this enzyme can no longer play its What other testing is available?
protective role. Semi-quantitative assays are the
following:
How is G6PD deficiency inherited ? (a) Fluorescent spot test, which is
This condition is inherited in an X- rapid, simple, sensitive, and
linked recessive pattern. The gene inexpensive. This test can be used in
associated with this condition is Countries where G6PD deficiency is
located on the X chromosome, which is both frequent and malaria endemic,
one of the two sex chromosomes. In before starting treatment with
males (who have only one X antimalarial drugs, such as
chromosome), one altered copy of the primaquine. A variant of the spot test,
gene in each cell is sufficient to cause not requiring the use of an ultraviolet
the condition. In females (who have lamp, but a naked eye evaluation,
two X chromosomes), a mutation allows the large population screening
would have to occur in both copies of in the tropical areas;
the gene to cause the disorder. Because
(b) and other screening tests are one G6PD deficiency mutation are
available: some of these, determine the carriers at a 50% risk to pass their
NADPH concentration indirectly, by G6PD deficiency X chromosome to a
measuring the reduced methemoglobin male child. As an X-linked disorder,
levels produced after NADPH G6PD deficiency would generally be
oxidation. This technique may be thought to affect only males. However,
applicable also to intact cells, with a females having a G6PD deficiency
direct detection of the G6PD activity in mutation on both of their X
individual RBCs, with 75% accuracy. chromosomes also have clinical
(c) Finally, the Heinz body examination symptoms. Some carrier females have
and GSH stability test may be been reported to have symptoms.
employed to distinguish G6PD- Therefore, all members of an identified
deficient from normal individuals. family should have G6PD testing and
genetic counseling. The risk for having
Can you test during pregnancy?
an affected male pregnancy is one
chance in two for a carrier female.
Amniocentesis requires obtaining a
sample of the fluid surrounding the
Can other family members be tested?
foetus from the uterus of the mother.
Cells retrieved from samples of Diagnostic testing
amniotic fluid can be put through DNA If there is concern about whether they
testing, which can identify the G6PD have G6PD deficiency, your other
status of the baby in utero. children can be tested. Talk to your
doctor or genetic counselor if you have
Can other members of the family
questions about testing for
have G6PD deficiency or be carriers?
galactosemia.
How many
deficiency?
people have
or not working properly. This enzymes testing, described below, and other
job is to change galactose into blood tests can help determine if your
glucose. When the GALT enzyme is baby has classic or mild galactosemia.
missing or not working properly,
galactose cannot be changed to
glucose so it builds up in the blood in
large amounts. Unless treated, the
excess galactose will affect many parts
of the body and, over time, may be life-
threatening.
Classic galactosemia
Classic galactosemia occurs when
babies do not have enough of the
GALT enzyme. Babies start showing
health effects within days of feeding on
breast milk or milk-containing
formulas. Virtually all cases of classic
galactosemia can be detected by
newborn screening.
Infants with galactosemia usually have and hypoglycemia can both lead to
diarrhea and vomiting within a few coma and, if not treated, can cause
days of drinking milk or formula death.
containing lactose.
Most untreated children eventually die
Some of the other early effects of of liver failure. Surviving babies who
untreated galactosemia include: remain untreated may have mental
Failure to gain weight or grow in retardation and other damage to the
length brain and nervous system.
Poor feeding and poor suck
Mild galactosemia (also known as
Lethargy
Duarte-variant)
Irritability
Children with mild galactosemia
If treatment is not started, other usually have symptoms that are less
symptoms are likely to follow: severe than seen in the classic form.
Low blood sugar, called Some have no symptoms at all and do
hypoglycemia not need treatment.
Seizures
Children with mild galactosemia that
Enlarged liver that does not
do need treatment but do not receive it
work properly
may develop one or more of the
Jaundice (yellow color to the
following:
skin or whites of the eyes)
Early cataracts
Bleeding
Mild mental retardation or
Serious blood infections that
learning delays
could lead to shock and death
Ataxia (unsteady gait)
Early cataracts which occur in
Delays in growth
about 10% of children
Speech problems and delays
Some untreated babies have high
Some girls with mild galactosemia will
levels of ammonia, a toxic substance,
have delayed periods or do not get their
in their blood. High ammonia levels
periods at all. Some women with mild All milk and milk products must be
galactosemia start menopause early or replaced with formula that contains no
have premature ovarian failure in lactose.
which the ovaries stop releasing eggs
The following are treatments often
earlier than normal menopause.
advised for children with classic
Some, but not all, African Americans galactosemia:
with galactosemia have an even milder
1. Lactose and galactose-free diet:
variant form. These individuals
People with classic galactosemia are
usually do not have serious health
encouraged to follow a lactose and
effects from their mild galactosemia.
galactose-free food plan throughout
What is the treatment for life. Lactose or galactose are found in
galactosemia? the following foods, all of which must
Your babys primary doctor will work be avoided:
with a metabolic doctor and a dietitian Milk and all dairy products
familiar with galactosemia to care for Processed and pre-packaged
your child. foods often contain lactose
Tomato sauces
Prompt treatment is needed to prevent
Some candies
serious health problems and mental
Certain medications tablets,
retardation. Babies with galactosemia
capsules, sweetened liquid
who do not start treatment shortly after
drops that contain lactose as a
birth may have permanent effects.
filler
Some fruits and vegetables also
Infants and children who are either
contain galactose
missing the GALT enzyme completely
Any foods or drugs which
or who have less than 10% of the
contain the ingredients
normal amount of enzyme must follow
lactulose, casein, caseinate,
a special food plan. They need to avoid
all foods with lactose and galactose.
control. The test results will help your you know if your child needs to avoid
doctors and dietitian fine-tune the lactose and galactose. If so, they will
treatment to meet your childs needs. give you a special food plan designed
to keep your child healthy.
Your doctor may also suggest a formal
evaluation of your childs mental What happens when galactosemia is
development and his or her speech and treated?
language skills. If your child shows Because the body also makes some
delays in certain areas of learning or galactose, symptoms cannot be
speech, extra help can be arranged. completely avoided by removing all
Early intervention programs are lactose and galactose from the diet.
available in most states to provide Researchers are working on finding a
services before children reach school treatment to lower the amount of
age. galactose made by the body, but there
is no effective method to do so at this
5. Informing friend, relatives,
time.
teachers and child-care providers
It is important for you to tell everyone When treatment starts before a baby is
who helps care for your child that he or 10 days old, there is a much better
she cannot eat or drink milk-containing chance for normal growth,
foods. A Medic-Alert bracelet that development and intelligence. Some
states your childs food restrictions can children who receive early treatment
be helpful. In addition, your doctor may have delays in growth but most
may advise you to carry an emergency attain normal adult heights.
treatment letter with steps for your
Even with careful treatment from an
childs care.
early age, some children with classic
Mild Galactosemia galactosemia show delays in learning
Children with mild galactosemia may and development and may need extra
or may not need treatment. Your help in school. Some children develop
metabolic doctor and dietitian will let speech and language delays. Some
When both parents are carriers, there during future pregnancies, and how to
is a 25% chance in each pregnancy for test other family members. Ask your
the child to have galactosemia. There is doctor about a referral to a genetic
a 50% chance for the child to be a counselor.
carrier, just like the parents. And, there
Is genetic testing available?
is a 25% chance for the child to have
Genetic testing for galactosemia can be
two working genes.
done on a blood sample. Genetic
testing, also called DNA testing, looks
for changes in the pair of genes that
Genetic counseling is available to
causes galactosemia. Over 99% of the
families who have children with
time, DNA testing can identify both
galactosemia. Genetic counselors can
gene changes in a child with this
answer your questions about how
condition.
galactosemia is inherited, choices
DNA testing is not necessary to
diagnose your child. However, it may
be helpful in determining what type of
galactosemia your child has. Babies
with classic galactosemia have specific
classic gene changes in both genes,
which are abbreviated as G. If a
child has two classic gene changes,
G/G, her or she has classic
galactosemia.
Can you test during pregnancy? Can other members of the family
If both gene changes have been found have galactosemia or be carriers?
in your child with galactosemia, DNA
Having galactosemia
testing can be done during any future
If they are healthy and show typical
pregnancies. The sample needed for
development, older brothers and sisters
this test is obtained by either CVS or
of a baby with galactosemia are
amniocentesis.
Diagnostic testing
Galactosemia carriers
If there is concern about whether they
Brothers and sisters who do not have
have galactosemia, your other children
galactosemia still have a 2/3rds chance
can be tested. Talk to your doctor or
to be carriers like their parents. Except
genetic counselor if you have questions
in special cases, carrier testing should
about testing for galactosemia.
only be done in people over 18 years of
age.
Carrier testing
Each of the parents brothers and If both gene changes have been found
sisters has a 50% chance to be a in your child, other adult family
carrier. It is important for other family members can have DNA testing to see
members to be told that they could be if they are carriers.
carriers. There is a small chance they
If DNA testing is not helpful, other
are also at risk to have children with
methods of carrier testing may be
galactosemia.
available. If you have questions about
All 50 US states offer newborn carrier testing, ask your genetic
screening for galactosemia. Newborn counselor or metabolic doctor.
screening can detect virtually all babies
Where can Confirmatory Testing be
with classic galactosemia. However, in
done for this condition?
families in which a child has mild
The confirmatory test for the
galactosemia, newborn screening
diagnosis is done by estimation of
results are not sufficient to rule out this
activity of Plasma Galactose-1-
condition in future siblings. In
phosphate uridyl transferase and
newborns who have a sibling with mild
Galactose Epimerase enzyme.
galactosemia, special diagnostic
Galactose-1-phosphate uridyl
Center transferase deficiency
Metropolis Healthcare Limited GALT deficiency
Kohinoor City Mall, Commercial Bldg- GALT
A,
Variants of classic GALT that are not
4th Floor, Off LBS Marg,
discussed in this fact sheet include:
Vidyavihar (West)
Galactokinase deficiency
Mumbai 400 070
UDP-galactose 4-epimerase
Tel: 022-33993939
deficiency (GALE)
What is the cost of the confirmatory
Where can I find more information?
test?
4000 INR
Children Living with Inherited
Metabolic Diseases (CLIMB)
How many people have
http://www.climb.org.uk
galactosemia?
About one in every 30,000 to 60,000
Parents of Galactosemic Children
babies in the United States is born with
http://www.galactosemia.org
galactosemia.
Genetic Alliance
Does galactosemia happen more
http://www.geneticalliance.org
frequently in a certain ethnic group?
Galactosemia occurs in people of all
ethnic groups around the world. It is
more common in people from Ireland.
One in 24,000 Irish babies is born with
this condition.
S
Where can I find more
ickle Cell Disease
information?
Does SCD happen more often in a People with SCD have abnormal
Does SCD go by any other in red blood cells that carries oxygen
hemoglobin cannot deliver enough cells are stiff and can get caught up
oxygen to the rest of the body. This with each other to form clumps within
causes individuals with SCD to the blood vessels, so oxygen is not
experience episodes of pain. Over time, delivered effectively. Therefore, the
the lack of oxygen damages the organs, body tissues and organs lack oxygen.
especially the spleen, brain, lungs and When there is not enough oxygen in
kidneys. SCD also causes anemia, or a the body tissues, anemia, pain and
low number of red blood cells. organ damage can occur.
There are several types of SCD, Sickle cells also die more quickly than
including hemoglobin SS, hemoglobin normal red blood cells. The bone
SC and hemoglobin S-beta marrow cannot make enough new cells
thalassemia. The most common type of to replenish the blood supply. Having
SCD is hemoglobin SS. The different too few red blood cells causes anemia.
types of SCD have some unique
SCD is not contagious. You cannot get
symptoms and some in common. It is
SCD from living with, touching, or
important to find out which type of
spending time with a person with SCD.
SCD your child has and talk with your
doctor about signs, symptoms and
What are the symptoms of SCD?
treatment specific to that condition. SCD causes minimal effects in some
people and more serious problems in
What causes SCD?
others. Most people with SCD do not
SCD is an inherited condition that
develop all of the symptoms.
occurs when the body makes
Symptoms can be chronic (on-going or
abnormally shaped hemoglobin.
long-term) or acute (immediate or
Normal hemoglobin is shaped like a
short-term). It is important to be
disk or doughnut so that it can move
educated about the symptoms so that
through the blood vessels easily. In
they can be properly managed.
people with SCD, hemoglobin is long
and narrow, or sickle-shaped. Sickle
The symptoms of SCD are related to abdomen and joints. Crises can be
anemia, pain or the effects of SCD on acute, lasting hours or days, or chronic,
specific body parts. lasting weeks to months. They can be
mild or severe. Many times, the exact
Most infants do not show signs of SCD
cause of a sickle cell crisis is unknown,
until they are a few months old. Often,
but it is likely that many factors
the first sign of SCD is pain or swelling
contribute. Dehydration and infection
in the childs hands or feet when small
are known to increase the chance of
blood vessels become blocked. This
having a crisis. In children with SCD,
causes some children to develop a
sickle cell crises are the leading cause
fever.
of hospitalizations and missed days of
school.
Signs of anemia include:
Fatigue (feeling tired or weak)
Infants and young children with SCD
Shortness of breath
are at an increased risk to develop
Dizziness
infections, including those that are life-
Headaches
threatening. Taking penicillin daily and
Cold hands or feet
receiving immunizations can prevent
Pale skin
infection.
Chest pain
A stroke can occur if sickle cells block
Most people with SCD experience pain
blood vessels to the brain. Strokes can
at some point in their life. An episode
cause permanent brain damage. While
of pain that occurs because tissues do
strokes are very serious, only about 5%
not have enough oxygen is called a
of children with SCD may have a
sickle cell crisis. Some people with
stroke.
SCD have one or fewer pain episodes
each year, while others can have more The spleen is an organ that removes
than fifteen episodes. Sickle cell crises damaged red blood cells and fights
can affect any part of the body, but infection. Sickle cells can clog the
most often affect the bones, lungs, spleen. This not only weakens the
spleens ability to fight infections, but SCD does not affect intelligence or the
can cause pain on the left side of the ability to learn. People with SCD are
abdomen. able attend regular school when they
are healthy. Many people with SCD
Blocked blood vessels in the lungs
have finished college and have full-time
cause symptoms such as wheezing,
jobs.
difficulty breathing, chest pain and
fever. Children with these symptoms While there are many complications in
often require hospitalization. SCD, the effects can be lessened when
parents know what to do when
Blocked blood vessels in the eye can
complications arise.
lead to blindness over time. Therefore,
it is important to have regular eye What is the treatment for SCD?
exams. Children with SCD are cared for by a
team of specialists, including a
When blood vessels leading out of the
hematologist, a doctor who specializes
penis are blocked, some boys with SCD
in treating blood disorders. The main
experience painful erections.
goal of treatment is to prevent
complications, and lessen them when
Around 30% of children with SCD
they do occur. Your childs individual
develop gallstones by age 7. If you
notice any signs of gallstones (yellow treatment plan may depend on the
symptoms that s/he is experiencing.
eyes, pain in right side of abdomen),
Parents awareness of signs of
contact your doctor.
complications is crucial to providing
Children with SCD tend to grow more rapid treatment.
slowly and begin puberty later than
their peers.
Prevent infection
Ulcers may develop on your childs
Infection is the leading cause of death
lower leg.
in children with SCD. It is very
important that children with SCD take this drug during childhood are
penicillin daily to prevent infection. unknown.
A small number of children with SCD your regular pediatrician to ensure up-
receive bone marrow transplants. Bone to-date treatment for your child. Some
marrow transplants are able to cure centers have multidisciplinary sickle
SCD for some patients. In order to have cell clinics that provide all of the childs
a bone marrow transplant, a genetic needs in one place. . A list of these
match must be found. There are risks centers can be found at
associated with the transplant, http://scinfo.org/sickle-cell-clinics-
including death. contacts-and-resources.
You may read information about the What causes the red blood cells to be
potential for gene therapy to treat or sickle-shaped?
cure SCD in the future. Researchers are Genes tell the body how to make
currently trying to find a way to insert a proteins. An error in the DNA spelling
normal hemoglobin gene into the cells of the gene for hemoglobin causes the
that need it. Although they have not yet hemoglobin protein to be shaped
found a way to do this safely and abnormally. People with SCD have
effectively, researchers across the spelling errors in both copies of the
country continue to work on gene hemoglobin gene. Everyone with SCD
therapy treatments for SCD. has a specific spelling error that causes
the sickle shape in at least one copy.
What happens when SCD is treated?
The goal of treatment is to lessen the Different spelling errors in the second
health problems that occur with SCD. copy of the hemoglobin gene cause the
However, even when a child receives different forms of SCD. People with SS
proper medical care and prevention, have the sickle cell gene change in
symptoms can still occur. both copies. People with hemoglobin
SC have a gene change that makes
You may be advised to see a
another form of abnormal hemoglobin
hematologist, a doctor who specializes
(type C). People with hemoglobin S-
in caring for children with blood
beta thalassemia have a different gene
disorders. These doctors can work with
called DNA testing, looks for changes second blood sample. If test results are
in genes that cause SCD. If you have still unclear, genetic testing may need
questions about genetic testing, talk to be performed on another blood
with your genetic counselor or sample.
hematologist. For most children,
It is important to complete blood tests
genetic testing is not necessary for
at the different points in time
diagnosis. However, it can be helpful
recommended by your doctor because
for carrier testing or prenatal diagnosis,
the body produces different types of
discussed below.
hemoglobin in infancy and adulthood.
What other testing is available? In the first few months of life, all babies
Newborn Screening still have some fetal hemoglobin.
Newborn screening for SCD is now Therefore, the levels of the different
done in all states. AA blood spot from a types of hemoglobin need to be
prick on a babys heel is used to screen compared at different time points in
for a number of different genetic order to establish a definitive
conditions. The initial newborn diagnosis.
screening test determines the amount
Can you test during pregnancy?
of normal hemoglobin in the blood
If both gene changes have been found
spot. If too little normal hemoglobin is
in your child with SCD, DNA testing
found on the initial newborn screening,
can be done in future pregnancies. The
another test is performed. If the second
sample needed for this test is obtained
test is also abnormal, the parents are
by either CVS or amniocentesis.
notified and the child referred to a
Parents may either choose to have
specialist for an evaluation.
testing during pregnancy or wait until
Confirmatory Testing birth to have the baby tested. A genetic
When your child is around six weeks counselor can talk to you about your
old, s/he will need to have a choices and answer questions about
confirmatory test performed on a
prenatal testing or testing your baby Each of the carrier parents brothers
after birth. and sisters has a 50% chance to also
be a SCD carrier. It is important to talk
Can other members of the family
to other family members about their
have SCD or be carriers?
risk of being carriers. There is a small
Having SCD
chance they are also at risk to have
The brothers and sisters of a baby with
children with SCD.
SCD also have a chance of being
affected, even if a parent has not When both parents are known to be
noticed any symptoms. Finding out carriers, newborn screening results are
whether other children in the family not sufficient to rule out SCD in a
have SCD is important because early newborn baby. In this case, further
treatment may prevent health testing should be done in addition to
problems. Talk to your doctor or newborn screening.
genetic counselor about testing your
Can other family members be tested?
other children for SCD.
Diagnostic testing
SCD Carriers
If both gene changes have been found
SCD carriers are not anemic and will
in your child with SCD, brothers and
generally not have symptoms of SCD.
sisters can be tested for SCD using
This is because carriers have a
DNA testing on a blood sample or a
working hemoglobin gene to make up
cheek swab. Other special tests may
for the abnormal one.
also be suggested.
Brothers and sisters who do not have
Carrier Testing
SCD still have a chance to be carriers.
If both gene changes have been found
Except in special cases, carrier testing
in your child with SCD, other family
should only be done on people over 18
members can have DNA testing on a
years of age.
blood sample or cheek swab to see if
they are carriers.
Where can Confirmatory Testing be SCD occurs most often in people with
done for this condition? African ancestry. About 1 in every 12
The confirmatory test for the African Americans is a carrier for SCD.
diagnosis is done by any of the two People of Mediterranean, Middle
different techniques amongst HPLC, Eastern, Indian, Caribbean, South
capillary electrophoresis and IEF American and Central American
using whole blood after six months of descent are also at an increased risk of
age of the patient being a carrier. However, SCD can
Center affect people of any ethnic background.
PreventiNe Lifecare Pvt. Ltd.
Does SCD go by any other names?
RPT House, Plot No. 6, Sector 24,
Hemoglobin SS, the most common
Turbhe, Navi Mumbai 400705
form of SCD, may also be called:
Ph: 022-61980000/11
Sickle cell anemia
How many people have SCD? Hemoglobin S Disease
Each year, around 2,000 babies are
Where can I find more information?
born with SCD in the United States.
Sickle Cell Disease Association of
About one in every 250-600 African-
America
American babies in the United States is
http://www.sicklecelldisease.org
born with SCD. SCD is less common in
children of other ethnic backgrounds. Sickle Cell Information Center
http://www.scinfo.org
Does SCD happen more often in a
certain ethnic group?