tyrosinemia type I

info · Genetic

A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.

Signs and symptoms

Hepatic failure
Elevated circulating succinylacetone concentration
Diminished tissue fumarylacetoacetate hydrolase activity
Metabolic acidosis
Growth delay
Hepatomegaly
Enlarged kidney
Nephrocalcinosis
Hypermethioninemia
Hypertyrosinemia

Also known as: hepatorenal tyrosinemia