Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Clinical subtype Synonyms Mild PKU mPKU PKU łagodna Wariant fenylketonurii Wariant PKU Variant PKU Variant phenylketonuria mPKU ORPHA code 79253 OMIM code - ICD10 code E70.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl