Methylmalonyl-CoA epimerase deficiency (Q104294): Difference between revisions
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Revision as of 10:09, 17 August 2026
This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1326188987 |
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| English | Methylmalonyl-CoA epimerase deficiency |
This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function. |
