Orphanet: Mild phenylketonuria

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Mild phenylketonuria

Disease definition

A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.


Classification level: Subtype of disorder
  • Synonym(s):
    • Mild PKU
    • Variant PKU
    • Variant phenylketonuria
    • mPKU
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10324
  • MedDRA: -

Detailed information

Article for general public


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