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Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease

17 Aug 2022

Abstract excerpt

-dependent enzymes methionine synthase (MS) and methylmalonyl-CoA mutase (MUT). As a result, patients with cblC disease exhibit plasma elevation of homocysteine (Hcy, substrate of MS) and methylmalonic acid (MMA, degradation product of methylmalonyl-CoA, substrate of MUT). The cblC disorder manifests early in childhood or in late adulthood with heterogeneous multi-organ involvement. This review covers current...

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PMID: 36105582
DOI: 10.1016/j.isci.2022.104981

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