Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency (Q104283): Difference between revisions
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Refere-se à deficiência de uma enzima que catalisa a isomerização de metilmalonil-CoA em succinil-CoA e está envolvida nas principais vias metabólicas. Ela requer um grupo protético derivado da vitamina B12, adenosilcobalamina, para funcionar. Este diagnóstico é com deficiência de sepiapterina redutase. | |||
| description / en | description / en | ||
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. | |||
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. |
