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Tyrosinemia type 1

Other Names for this Disease
  • FAH deficiency
  • Fumarylacetoacetase deficiency
  • Hepatorenal tyrosinemia
  • Tyrosinemia type I
More Names
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Overview


Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.[1]


References

  1. Tyrosinemia. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=tyrosinemia. Accessed February 3, 2010.
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General Information

  • Genetics Home Reference (GHR) contains information on Tyrosinemia type 1. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Tyrosinemia type 1. Click on the link to view a sample search on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents. To view this fact sheet, click on the link.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Tyrosinemia type 1. Click on the link to go to OMIM and review these resources.