Tyrosinemia type 1
From BugSigDB
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