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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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.
Last updated: 7/25/2012
- 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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.