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