Term Name: tyrosinemia type I
Synonyms: hepatorenal tyrosinemia
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.
Ontology: Human Disease [DOID:0050726]   ( DOID:0050726 )

Relationships
is a type of: tyrosinemia