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methylmalonic aciduria and homocystinuria type cblC
Summary
- Synonym
-
- Cobalamin C deficiency
- MAHCC
- Definition
- A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
- Super Class
- digenic disease methylmalonic acidemia
External Links
- Disease Ontology
- DOID:0050715
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
