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Metadata
ID DOID:0050726
Name tyrosinemia type I
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.
http://en.wikipedia.org/wiki/Type_I_tyrosinemia
Xrefs

OMIM:276700

Synonyms

hepatorenal tyrosinemia [EXACT]

Parent Relationships

is_a tyrosinemia

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