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Inborn errors of cobalamin absorption, transport and metabolism


Sass, Jörn Oliver; Baumgartner, M (2013). Inborn errors of cobalamin absorption, transport and metabolism. In: ACTA Pediátrica Española, Congreso nacional de Errores Congénitos del Metabolismo, 1 September 2013 - 2 September 2013, 18-21.

Abstract

Cobalamin (Cbl, vitamin B12) is a cobalt-containing vitamin which is synthesized by bacteria and archaea. It can be taken up from food of animal origin, but not from higher plants. Various cobalamins differ in the residue R in the upper axial position of the molecule. In adenosylcobalamin (AdoCbl) R is a 5’-deoxyadenosyl moiety, in methylcobalamin (MeCbl) a methyl group. Common vitamin B12 supplements contain hydroxocobalamin (OHCbl, labelled “the natural form of the vitamin”, with R = OH) or cyanocobalamin (CNCbl, with R = CN). CNCbl does not occur naturally, but is formed during the isolation of bacterial cobalamin (Watkins & Rosenblatt, 2011a). Nominations such as cblA- cblG and cblJ do not refer to special forms of cobalamin, but to enzymes and transport proteins involved in intracellular cobalamin metabolism. Each of those designations refers to a different complementation group and to a defect in cobalamin metabolism caused by mutations in the gene identified for this particular complementation group (Fowler et al., 2008).

Cobalamin (Cbl, vitamin B12) is a cobalt-containing vitamin which is synthesized by bacteria and archaea. It can be taken up from food of animal origin, but not from higher plants. Various cobalamins differ in the residue R in the upper axial position of the molecule. In adenosylcobalamin (AdoCbl) R is a 5’-deoxyadenosyl moiety, in methylcobalamin (MeCbl) a methyl group. Common vitamin B12 supplements contain hydroxocobalamin (OHCbl, labelled “the natural form of the vitamin”, with R = OH) or cyanocobalamin (CNCbl, with R = CN). CNCbl does not occur naturally, but is formed during the isolation of bacterial cobalamin (Watkins & Rosenblatt, 2011a). Nominations such as cblA- cblG and cblJ do not refer to special forms of cobalamin, but to enzymes and transport proteins involved in intracellular cobalamin metabolism. Each of those designations refers to a different complementation group and to a defect in cobalamin metabolism caused by mutations in the gene identified for this particular complementation group (Fowler et al., 2008).

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Additional indexing

Other titles:Defectos congénitos de la absorción y el metabolismo de la cobalamina
Contributors:Dra. M. Concepción García Jiménez
Item Type:Conference or Workshop Item (Paper), not refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Event End Date:2 September 2013
Deposited On:17 Jul 2014 13:01
Last Modified:05 Apr 2016 17:58
Publisher:Ediciones Mayo S.A.
Series Name:Acta Pediatrica Espanola
ISSN:0001-6640
Official URL:http://www.nutriciaclinico.es/revista/index.html#/20/
Permanent URL: https://doi.org/10.5167/uzh-97360

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