Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases. Disease data Classification Clinical subtype Synonyms GTPCH deficiency Hiperfenylalaninemia spowodowana niedoborem cyklohydrolazy GTP Niedobór GTPCH Hyperphenylalaninemia due to GTP cyclohydrolase deficiency ORPHA code 2102 OMIM code 233910 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