What is Phenylketonuria?

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.

Other condition names

  • PAH deficiency
  • PKU
  • Phenylalanine hydroxylase deficiency

Inheritance type

Autosomal recessive


  • Europe: 1-5 in 10,000

Age of Onset

  • Infancy
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