Tyrosinemia Type I

**Semantic type:** Disease or Syndrome

**Definition:** Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma.

**Synonyms:** - Hereditary Tyrosinemia Type I - Type I Tyrosinemia