Tyrosinemia type II
Tyrosinemia type II
Definition
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 keratosis palmoplantaris-corneal dystrophy syndrome, oculocutaneous tyrosinemia, Richner-Hanhart syndrome, tyrosinemia due to TAT deficiency, tyrosinemia due to tyrosine aminotransferase deficiency, tyrosinemia type II — per MONDO