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| Term | methylmalonic aciduria and homocystinuria type cblC | ID (Ontology) | DOID:0050715 (Human Disease) | |||||||||
| 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. | |||||||||||
| Also Known As | "Cobalamin C deficiency" ; "MAHCC" | |||||||||||
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organic acidemia |__methylmalonic acidemia__ polygenic disease | |__digenic disease_________| methylmalonic aciduria and homocystinuria type cblC 2 rec. |
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digenic disease methylmalonic acidemia |
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| MIM:277400 | |||