MONDO_0010161 (tyrosinemia type I) can be described as follows. 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. Also known as: FAH deficiency, Tyrosinemia Type 1, fumarylacetoacetase deficiency, fumarylacetoacetate hydrolase deficiency, hepatorenal tyrosinemia, type I tyrosinemia.