tyrosinemia type I (DOID:0050726)
Alliance: disease page
Synonyms: hepatorenal tyrosinemia
Alt IDs: OMIM:276700
Definition: 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.