Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. Disease data Classification Disease Synonyms FAH deficiency Niedobór FAH Niedobór fumaryloacetoacetazy Niedobór hydrolazy fumaryloacetooctanu Tyrozynemia typu I Tyrozynemia wątrobowo-nerkowa Fumarylacetoacetase deficiency Fumarylacetoacetate hydrolase deficiency Hepatorenal tyrosinemia Tyrosinemia type I ORPHA code 882 OMIM code 276700 ICD10 code E70.2 ICD11 code 5C50.11 *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