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Tyrosinemia Type 1

Abstract

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NORD is very grateful to Robert M. Tanguay, DSc, Professor and Associate Head, Department of Molecular Biology, Medical Biochemistry & Pathology, Lab Cell & Developmental Genetics, Universite Laval, Quebec, Canada, for assistance in the preparation of this report.

Synonyms of Tyrosinemia Type 1

  • FAH deficiency
  • fumarylacetoacetase deficiency
  • fumarylacetoacetate hydrolase deficiency
  • hepatorenal tyrosinemia
  • hereditary tyrosinemia type 1

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous system.

Symptoms and physical findings associated with tyrosinemia type I appear in the first months of life and include failure to gain weight and grow at the expected rate (failure to thrive), fever, diarrhea, vomiting, an abnormally enlarged liver (hepatomegaly), and yellowing of the skin and the whites of the eyes (jaundice). Tyrosinemia type I may progress to more serious complications such as severe liver disease, cirrhosis, and hepatocarcinoma if left untreated. Treatment with nitisinone and a low-tyrosine diet should begin as soon as possible after the diagnosis is confirmed.

Organizations related to Tyrosinemia Type 1

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., liver disease, etc.)

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