Tyrosinemia, Type II (TYR-II)
Tyrosinemia, Type II (TYR-II) is a condition that can affect the eyes and skin, as well as intellectual development. It is considered an amino acid condition because people with TYR-II are unable to break down an amino acid, a small molecule that makes up proteins, known as tyrosine. Detecting TYR-II early and beginning treatment can prevent some of the severe outcomes of the condition.
This condition is also known as: hypertyrosinemia type II, keratosis palmoplantaris - corneal dystrophy, oculocutaneous tyrosinemia, Richner-Hanhart syndrome, tyrosinemia due to TAT deficiency, tyrosinemia due to tyrosine aminotransferase deficiency.
To learn more about Tyrosinemia, Type II, visit Baby's First Test: Tyrosinemia, Type II. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Board Certified Metabolic Providers for a listing of medical specialists and clinic contact information.