Term Name: | tyrosinemia type I |
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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 ) |