Tyrosinemia (TYR I, II, III)

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

Signs and Symptoms
Type 1: Symptoms include failure to thrive, diarrhea, vomiting, jaundice, cabbage odor, and nosebleeds. 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 HPD, and TAT genes may also cause tyrosinemia.


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