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Genetic disorders of vitamin B12metabolism: eight complementation groups – eight genes

1 Nov 2010

Abstract excerpt

Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular...

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PMID: 21114891
DOI: 10.1017/s1462399410001651

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