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Phenylketonuria

Disease definition

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

ORPHA:716

  • Synonym(s):
    • PAH deficiency
    • PKU
    • Phenylalanine hydroxylase deficiency
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E70.0  E70.1
  • OMIM: 261600
  • UMLS: C0031485
  • MeSH: D010661
  • GARD: 7383
  • MedDRA: 10034872

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