Orphanet: Tyrosinemia type 1

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Tyrosinemia type 1

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • FAH deficiency
    • Fumarylacetoacetase deficiency
    • Fumarylacetoacetate hydrolase deficiency
    • Hepatorenal tyrosinemia
    • Tyrosinemia type I
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E70.2
  • OMIM: 276700
  • UMLS: C0268490
  • MeSH: -
  • GARD: 2658
  • MedDRA: 10069462

Detailed information

Article for general public


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