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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tyrosinemia type 2


Other Names for this Disease
  • Keratosis palmoplantaris - corneal dystrophy
  • Keratosis palmoplantaris with corneal dystrophy
  • Oculocutaneous tyrosinemia
  • Oregon type tyrosinemia
  • Richner Hanhart syndrome
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Treatment

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How might tyrosinemia type 2 be treated?

The management of tyrosinemia type 2 revolves around dietary restriction of phenylalanine and tyrosine. This controlled diet typically lowers the blood levels of tyrosine, resulting in rapid resolution of the skin and eye symptoms. However, the effects of this controlled diet on central nervous system involvement (mental development) remains unclear. In some cases, skin lesions may be treated with oral retinoids.[1]
Last updated: 7/25/2012

References
  1. Wendel U. Tyrosinemia type 2. Orphanet. November 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=28378. Accessed 7/25/2012.


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Other Names for this Disease
  • Keratosis palmoplantaris - corneal dystrophy
  • Keratosis palmoplantaris with corneal dystrophy
  • Oculocutaneous tyrosinemia
  • Oregon type tyrosinemia
  • Richner Hanhart syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.