Tyrosinemia type 1 is a rare genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous system.
