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Tyrosinemia type I
rareTyrosinemia 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.
- Identifiers
- MONDO:0010161 OMIM:276700Orphanet:882
- Causal genes
- FAH
- Part of
- Tyrosinemia
- Also known as
- FAH deficiency · fumarylacetoacetase deficiency · fumarylacetoacetate hydrolase deficiency · hepatorenal tyrosinemia · type I tyrosinemia
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