Rare metabolic liver disease Polymalformative genetic syndrome with increased risk of developing cancer Rare hereditary metabolic disease with peripheral neuropathy Disorder of phenylalanin or tyrosine metabolism Tyrosinemia type 1 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. Fumarylacetoacetase deficiency Hepatorenal tyrosinemia MedDRA:10069462 orphanet Fumarylacetoacetate hydrolase deficiency ICD10:E70.2 OMIM:276700 FAH deficiency UMLS:C0268490 Rare genetic renal disease