Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. Disease data Classification Clinical subtype Synonyms Hyperphenylalaninemia due to dehydratase deficiency Hiperfenylalaninemia spowodowana niedoborem dehydratazy Hiperfenylalaninemia spowodowana niedoborem dehydratazy karbinoloaminowej pteryny Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency Hyperphenylalaninemia with primapterinuria ORPHA code 1578 OMIM code 264070 ICD10 code E70.1 ICD11 code 5C59.01 *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