Tyrosinemia (TYR I, II, III)

Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine.

Type 1: Symptoms include failure to thrive, diarrhea, vomiting, jaundice, cabbage odor, and osebleeds. Can lead to liver and kidney failure and impact the nervous system. Type II: Symptoms include excessive tearing, sensitivity to light, eye pain, redness, and intellectual disability. Type III: Symptoms include Intellectual disability, seizures, and loss of balance. Mutations in the FAH and HPD genes may also cause tyrosinemia.