What is Phenylketonuria (PKU)?
Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine (Phe) into tyrosine. This leads to toxic accumulation of phenylalanine in the blood and brain, resulting in severe neurological and developmental complications if untreated.
Phenylketonuria (PKU) occurs in ~1 in 10,000–15,000 births worldwide, with significant regional variation. Globally, ~50,000–70,000 people live with PKU.
