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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.
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