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Article

Gene Identification for the cblD Defect of Vitamin B<sub>12</sub>Metabolism

2 Apr 2008

Abstract excerpt

BACKGROUND: Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the homeostasis of methylmalonic acid and homocysteine. Nine defects of intracellular cobalamin metabolism have been defined by means of somatic complementation analysis. One...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18385497
DOI: 10.1056/nejmoa072200

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Related research

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Research trail→

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Gene Identification for the cblD Defect of Vitamin B<sub>12</sub>MetabolismPMID 18385497Read ↗

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Semantic proximity Read ↗

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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.Semantic proximity Read ↗

Identification of the gene responsible for the <i>cblA</i> complementation group of vitamin B <sub>12</sub> -responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangementsSemantic proximity Read ↗

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.Semantic proximity Read ↗

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.Semantic proximity Read ↗

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.Semantic proximity Read ↗

Genetic disorders of vitamin B12metabolism: eight complementation groups – eight genesSemantic proximity Read ↗

Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect.Semantic proximity Read ↗

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