| 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 | |
| Synonyms |
hepatorenal tyrosinemia [EXACT] |
| Parent Relationships |
is_a tyrosinemia |