Enzyme Biochemistry Subjects

PHENYLKETONURIA

Created by Elga F. Saki

Swiss German University
Biomedical Engineering 4
2019
 WHAT IS PHENYLKETONURIA?

Phenylketonuria (commonly known as PKU) is an

inherited disorder that increases the levels of a
substance called phenylalanine in the blood.
Phenylalanine is a building block of proteins (an
aminoacid) that is obtained through the diet. It is found
in all proteins and in some artificial sweeteners. If PKU
is not treated, phenylalanine can build up to harmful
levels in the body, causing intellectual disability and
other serious health problems.

Definition of PKU
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 PEOPLE WITH PKU
Infants with classic PKU appear normal until they are a few months old.

Without treatment, these children:

1. develop permanent intellectual disability.
2. Seizures, delayed development,
3. behavioral problems,
4. psychiatric disorders are also common.

Children with classic PKU tend to have lighter skin and hair, eczema.

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 THE CAUSES
Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions
for making an enzyme called phenylalanine hydroxylase. This enzyme converts
the amino acidphenylalanine to other important compounds in the body. If gene
mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the
diet is not processed effectively. As a result, this amino acid can build up to toxic
levels in the blood and other tissues. Because nerve cells in the brain are particularly
sensitive to phenylalanine levels, excessive amounts of this substance can cause brain
damage.

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THE CAUSES

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PROCESS FOR DIAGNOSIS

Blood tests to determine their

phenylalanine serum levels in
their plasma, urine, and
cerebrospinal fluid. If the levels
are greater than 1200 μmol/L
then they are diagnosed with
classic PKU, and if the levels are
between 600 and 1200 μmol/L
then it is classified as mild.

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The main treatment
• A lifetime diet with very limited
intake of protein, because foods with
protein contain phenylalanine
• Taking a PKU formula — a special
nutritional supplement — for life to
make sure you get enough essential
protein (without phenylalanine) and
nutrients that are crucial for growth
and general health
TREATMENTS FOR PKU
Formula for people with PKU Using Suplement
• For baby, A dietitian can carefully a supplement called neutral amino
calculate the amount of breast milk or acid therapy in powder or tablet
regular formula to be added to the
form. This supplement may block
phenylalanine-free formula.
some absorption of phenylalanine.
• The formula for older children and This may be a treatment option for
adults is not the same as the one used adults with PKU
for infants, but it works on the same
principle. It provides essential protein
(amino acids) without phenylalanine
and is continued for life.
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 REFERENCES
Emily, 2016. Genetic Disorders - Phenylketonuria. [Online]
Available at: https://owlcation.com/stem/Genetic-Disorders-Phenylketonuria
[Accessed Sunday May 2019].

Mayo Clinic, 2019. Phenylketonuria (PKU). [Online]

Available at: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-
treatment/drc-20376308
[Accessed Sunday May 2019].

U.S National Library of Medicine, 2019. Genetics Home Reference. [Online]

Available at: https://ghr.nlm.nih.gov/condition/phenylketonuria#sourcesforpage
[Accessed Sunday May 2019].
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THANK YOU

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