Expert Reviews in Molecular Medicine

Table of Contents - Volume 12 - 2010  

Review Article

Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

D. Sean Froesea1 and Roy A. Gravela2 c1

a1 Structural Genomics Consortium, University of Oxford, Oxford, UK.

a2 Department of Biochemistry & Molecular Biology, Faculties of Medicine and Kinesiology, University of Calgary, Calgary, Alberta, Canada.

Abstract

Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 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 B12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment.

Correspondence:

c1 Corresponding author: Roy A. Gravel, Department of Biochemistry & Molecular Biology, Faculties of Medicine and Kinesiology, University of Calgary, Room 250 Heritage Medical Research Building, 3330 Hospital Drive NW, Calgary, Alberta, Canada T2N 4N1. E-mail: rgravel@ucalgary.ca

Footnotes

This manuscript is dedicated to the memory of Aarif Edoo.

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