Tyrosinemia type 2
Other Names for this Disease
- Tyrosinemia type II
- Richner Hanhart syndrome
- TAT deficiency
- Tyrosine transaminase deficiency
- Keratosis palmoplantaris with corneal dystrophy
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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.