Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency (Q104283): Difference between revisions
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Revision as of 10:08, 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. This diagnosis is with sepiapterin reductase deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1464831299 |
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| English | Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase 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. This diagnosis is with sepiapterin reductase deficiency. |
