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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tyrosinemia type 1


Other Names for this Disease

  • FAH deficiency
  • Fumarylacetoacetase deficiency
  • Hepatorenal tyrosinemia
  • Tyrosinemia type I
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might tyrosinemia type 1 be treated?

There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. Early diagnosis and prompt treatment are essential for an improved prognosis. Some individuals require a liver transplant if their liver disease is already advanced before treatment begins.[1]

Detailed information on the treatment of tyrosinemia type 1 is available from GeneReviews.
Last updated: 4/26/2010

References
  1. Tyrosinemia: Information for Physicians and Other Health Care Providers. Illinois Department of Public Health Web site. http://www.idph.state.il.us/HealthWellness/fs/tyrosinemia.htm. Accessed 4/26/2010.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
  • The NORD Physician Guide  for Tyrosinemia type 1 was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors.  The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition. 

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Tyrosinemia type 1. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Nitisinone
Trade Name
(Manufacturer Name)
Orfadin®
(Swedish Orphan AB)
Indication
The FDA has approved this product to be used in this manner.
Adjunctive therapy to dietary restriction of tyrosine and phenylalanine in the treatment of hereditary tyrosinemia type 1
More Information about this product Drug Information Portal

Other Names for this Disease
  • FAH deficiency
  • Fumarylacetoacetase deficiency
  • Hepatorenal tyrosinemia
  • Tyrosinemia type I
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.