Tyrosinemia type II

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

Also known as: Richner-Hanhart syndrome, keratosis palmoplantaris-corneal dystrophy syndrome, oculocutaneous tyrosinemia, tyrosinemia due to TAT deficiency, tyrosinemia due to tyrosine aminotransferase deficiency, tyrosinemia type II, Oregon type tyrosinemia, Richner Hanhart syndrome

0 clinical trials for this condition and its sub-types.