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.

Aliases

FAH deficiency
Fah deficiency
Fumarylacetoacetase deficiency
fumarylacetoacetase deficiency
Fumarylacetoacetate hydrolase deficiency
fumarylacetoacetate hydrolase deficiency
Hepatorenal tyrosinemia
hepatorenal tyrosinemia
type I tyrosinemia
tyrosinemia type 1
tyrosinemia type I
tyrosinemia type I
tyrosinemia, type 1
tyrosinemia, type I
TYRSN1