Journal
EXPERT REVIEWS IN MOLECULAR MEDICINE
Volume 12, Issue -, Pages -Publisher
CAMBRIDGE UNIV PRESS
DOI: 10.1017/S1462399410001651
Keywords
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Funding
- Canadian Institutes for Health Research (CIHR) [MOP-44353]
- Structural Genomics Consortium, Oxford University
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Vitamin B-12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B-12 utilisation constitute an important fraction of inherited newborn disease. Functionally, B-12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B-12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B-12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B-12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment.
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