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Phenylketonuria

What is Phenylketonuria?

A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.

Other condition names

  • PAH deficiency
  • PKU
  • Phenylalanine hydroxylase deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Europe: 1-5 in 10,000

Age of Onset

  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.