Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. Disease data Classification Clinical subtype Synonyms Hyperphenylalaninemia due to dihydropteridine reductase deficiency Fenyloketonuria typu 2 Hiperfenyloalaninemia spowodowana niedoborem reduktazy dihydropterydyny PKU typu 2 PKU type 2 Phenylketonuria type 2 ORPHA code 226 OMIM code 261630 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