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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.

Your Question

My son is 18 days old and has been diagnosed with tyrosinemia type 1. Is there any hope of curing my son's illness?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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
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.