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GLYCOGEN

STORAGE
DISEASE
Prepared by:
Canceran, Charlene
Abendan, Kenneth Jairuz
Lagpao, Dan Adrian

TYPE
OF GSD

OTHER NAMES

Type 1

von Gierke disease or


hepatorenal glycogenosis

Type 2

Pompe disease

Type 3

Forbes-Cori disease or limit


dextrinosis

Type 4

amylopectinosis or
Andersen disease

Type 5

McArdle disease

Type 6

Hers disease

Type 7

Tarui disease

MISSING ENZYME

MUTATION

mutations in
glucose-6-phosphatase
G6PCandSLC37A4,
(G6Pase)
cause GSDI
alpha-1,4-glucosidase
(acid maltase)
glycogen debranching
enzyme in liver &
skeletal muscles
glycogen branching
enzyme in skeletal
muscles

mutation in GAA

Mutations in
theAGLgene cause
GSDIII
Mutations in
theGBE1gene
cause GSD IV
Mutations in
Muscle phosphorylase /
thePYGMgene
myophosphorylase
cause GSDV
Mutations in
liver glycogen
thePYGLgene cause
phosphorylase
GSDVI
Mutations in
phosphofructokinase
thePFKMgene
cause GSDVII

SYMPTOMS
Symptoms vary based on the enzyme that is missing.
They usually result from the buildup of glycogen or
from not being ableto produce glucose when
needed. Because GSD occurs mainly in muscles and
the liver, those areas show the mostsymptoms.
Symptoms may include:
Poor growth
Muscle cramps
Low blood sugar
A greatly enlarged liver
A swollen belly
Abnormal blood test

Who gets glycogen storage


disorders?
Glycogen storage disorders are inherited. This
means that they are passed on in families through
your genes. Inheritance of these disorders can be
done in two patterns.
Autosomal recessive inheritance pattern
X-linked inheritance pattern

Who gets glycogen storage


disorders?
Autosomal recessive inheritance
pattern
Most glycogen storage disorders are
inherited in a pattern called
autosomal recessive inheritance.
Someone can be called healthy but
carry the faulty gene. If both parents
of a child are carriers of the faulty
gene, the child may be affected by
the glycogen storage disorder.

Who gets glycogen storage


disorders?
X-linked inheritance pattern
This occurs in some people with glycogen
storage disorder type IX. In this pattern,
females can be carriers for the disorder but
the disorder only affects males. Females
carry the faulty gene for the disorder on
one of their two X chromosomes. The
harmful effects of the gene are masked by
their normal second X chromosome.
However, the harmful effects are not
masked when the carrier is a male, due to
males having an X and Y chromosome.

TREATMENT
For the types of GSD that can be treated, patients must carefully
follow a special diet.
Frequent high carbohydrate meals during the day. For
some children, eating several small meals rich in sugars and
starches every day helps prevent blood sugar levels from
dropping.
Cornstarch. For some young children, giving uncooked
cornstarch every four to six hours including during overnight
hours also can help keep blood sugar levels from getting low.
A doctor would know how much cornstarch a child would need.
Continuous nighttime feeding. Some children will need a
special feeding tube placed into their stomach in order to
maintain the blood glucose level. The feeding tube is then
used to give formula with a high concentration of glucose. This
helps control the blood sugar level.
Medicine:GSD tends to cause uric acid (a waste product) to
build up in the body. This buildup of uric acid can cause gout

References:
https://ghr.nlm.nih.gov
http://
emedicine.medscape.com/article/1116574-overvi
ew
http://www.cincinnatichildrens.org/health/g/gsd/