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Article

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

The Journal of biological chemistry - 8 Oct 2004

Suormala Terttu, Baumgartner Matthias R, Coelho David, Zavadakova Petra, Kozich Viktor, Koch Hans Georg, Berghaüser Martin, Wraith James E, Burlina Alberto, Sewell Adrian, Herwig Jürgen, Fowler Brian

Abstract excerpt

Intracellular cobalamin is converted to adenosylcobalamin, coenzyme for methylmalonyl-CoA mutase and to methylcobalamin, coenzyme for methionine synthase, in an incompletely understood sequence of reactions. Genetic defects of these steps are defined as cbl complementation groups of which cblC, cblD (described in only two siblings), and cblF are associated with combined homocystinuria and methylmalonic aciduria....

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Identifiers

PMID: 15292234
DOI: 10.1074/jbc.M407733200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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