| 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 ) |