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

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