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tyrosinemia type I
Summary
- Synonym
-
- 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.
- Super Class
- tyrosinemia
External Links
- Disease Ontology
- DOID:0050726
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P24752 | Acetyl-CoA acetyltransferase, mitochondrial | |
| P35475 | Alpha-L-iduronidase |
