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