Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase. Disease data Classification Clinical subtype Synonyms BH4-responsive HPA/PKU Hiperfenyloalaninemia/fenyloketonuria wrażliwa na BH4 HPA/PKU wrażliwa na BH4 HPA/PKU wrażliwa na tetrahydrobiopterynę BH4-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive HPA/PKU ORPHA code 293284 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