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PKU - general information

Phenylketonuria or PKU is the most common congenital disorder affecting the metabolism of proteins. PKU is due to the mutation of a gene that codifies phenylalanine hydroxylase (PAH), the enzyme that metabolizes the amino acid phenylalanine into tyrosine, another amino acid. The absence of phenylalanine hydroxylase prevents this reaction, and may cause damage to the brain. If identified at birth, early treatment allows normal development and prevents any compromise of the central nervous system.

What is phenylalanine (Phe)?

Amino acids are the building blocks of proteins. Phenylalanine is an essential amino acid. This means that the body cannot synthesize it and therefore must be provided through foods. It is vital in order to permit the synthesis of the most common essential proteins. Normally phenylalanine is metabolized into tyrosine by phenylalanine hydroxylase. An intake of phenylalanine can only cause problems for those affected by phenylketonuria.

How common is PKU?

PKU has a frequency of roughly 1 in every 10,000 births and is one of the "rare" genetic diseases.

PKU and a balanced diet

Blood tests done at birth can identify the amount of Phenylalanine an individual can tolerate. The Phe tolerance will be adjusted continuously to the individual metabolic situation.
The diet should then be individualized to include a variety of foods with the correct amount of Phe throughout the day.


This Section is intended to provide a general overview only.  The referenced information may not reflect new developments on all topics as of any given time.  Specific medical questions should be directed to your personal physician who can address your medical concerns on an individual basis. If you have any questions or concerns about your symptoms, any physical condition or your health in general, and before changing your diet, starting or stopping any treatment or acting upon any information provided here, you should consult with your physician or health care provider regarding your own specific condition and health care circumstances.
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