Disease-gene associations mined from literature

Human genes for tyrosinemia type I

Tyrosinemia type I [DOID:0050726]

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.

Synonyms:  tyrosinemia type I,  DOID:0050726,  tyrosinemia type Is,  hepatorenal tyrosinemia,  hepatorenal tyrosinemias

Linkouts:  OMIM