| Metadata | |
|---|---|
| ID | DOID:0050715 |
| Name | methylmalonic aciduria and homocystinuria type cblC |
| 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. http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 |
| Xrefs | |
| Synonyms |
Cobalamin C deficiency [EXACT] MAHCC [EXACT] |
| Parent Relationships |
is_a digenic disease |