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Inherited Disorders of Cobalamin and Folate Absorption and Metabolism

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Inborn Metabolic Diseases

Abstract

Cobalamin (Cbl, vitamin B12) is a widely distributed, cobalt-containing, water-soluble vitamin that is not found in higher plants. Cb1 is needed for only two reactions in man, but its metabolism involves a complex absorption and transport system and intricate intracellular conversions. As methylcobalamin (MeCbl). it is a cofactor for the cytoplasmic enzyme methionine synthase, which synthesizes the essential amino acid methionine from homocysteine and thereby recycles the crucial folate derivative tetrahydrofolate (THF). As 5′-deoxyadenosylcobalamin (AdoCbl), it is the cofactor for the mitochondrial enzyme methylmalonyl-CoA mutase, which is involved in the catabolism of valine, threonine, and odd-chain fatty acids into succinyl-CoA, an intermediate of the Krebs cycle.

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Authors
  1. D. S. Rosenblatt
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  2. M. I. Shevell
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Editor information

Editors and Affiliations

  1. University Children’s Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M.D.

  2. Hospital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M.D.

  3. International Institute of Cellular and Molecular Pathology, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe M.D.

  4. Sendai, Japan

    K. Tada

  5. Portland, Oregon, USA

    N. R. M. Buist

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© 1995 Springer-Verlag Berlin Heidelberg

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Rosenblatt, D.S., Shevell, M.I. (1995). Inherited Disorders of Cobalamin and Folate Absorption and Metabolism. In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_24

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  • DOI: https://doi.org/10.1007/978-3-662-03147-6_24

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03149-0

  • Online ISBN: 978-3-662-03147-6

  • eBook Packages: Springer Book Archive

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