x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:882

  • 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

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.