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Classic phenylketonuria

Disease definition

A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

ORPHA:79254

Classification level: Subtype of disorder
  • Synonym(s):
    • Classic PKU
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.0
  • OMIM: -
  • UMLS: C0751434
  • MeSH: -
  • GARD: -
  • MedDRA: 10034875

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