" /> Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency - CISMeF





Preferred Label : Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency;

ICD-11 definition : 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.;

ICD-11 synonym : Methylmalonyl-CoA racemase deficiency with sepiapterin reductase deficiency;

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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.

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28/07/2025


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