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Tyrosinemia type 1

Orpha number ORPHA882
Synonym(s) FAH deficiency
Fumaryl acetoacetase deficiency
Fumaryl acetoacetate hydrolase deficiency
Hepatorenal tyrosinemia
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • E70.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 410056006

Summary

Tyrosinemia type 1 (HTI) is a treatable, but potentially fatal, hereditary error of amino acid metabolism characterized by liver disease and secondary renal tubular dysfunction leading to hypophosphatemic rickets. All patients have an increased risk of hepatocellular carcinoma and may also manifest peripheral neurological crises


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Detailed information

Clinical practice guidelines
  • EN (2013,pdf)
Clinical genetics review
  • EN (2011)
Multimedia
  • EN (2011)
  • FR (2011)
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