Tyrosinemia type I
Tyrosinemia type I
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.
Also known as FAH deficiency, fumarylacetoacetase deficiency, fumarylacetoacetate hydrolase deficiency, hepatorenal tyrosinemia, type I tyrosinemia, Tyrosinemia Type 1, tyrosinemia type I — per MONDO