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Most cases of spina bifida and other neural tube defects result from maternal folate and\/or cobalamin insufficiency in the periconceptual period. Polymorphisms in a number of genes involved in folate and cobalamin metabolism exacerbate the risk. Inborn errors of cobalamin metabolism affect its absorption, (intrinsic factor deficiency, Imerslund\u2010Gr\u00e4sbeck syndrome) and transport (transcobalamin deficiency) as well as its intracellular metabolism affecting adenosylcobalamin synthesis (<jats:italic>cblA<\/jats:italic>and<jats:italic>cblB<\/jats:italic>), methionine synthase function (<jats:italic>cblE<\/jats:italic>and<jats:italic>cblG<\/jats:italic>) or both (<jats:italic>cblC<\/jats:italic>,<jats:italic>cblD<\/jats:italic>and<jats:italic>cblF)<\/jats:italic>. Inborn errors of folate metabolism include congenital folate malabsorption, severe methylenetetrahydrofolate reductase deficiency and formiminotransferase deficiency. The identification of disease\u2010causing mutations in specific genes has improved our ability to diagnose many of these conditions, both before and after birth.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.06133.x","type":"journal-article","created":{"date-parts":[[2006,5,23]],"date-time":"2006-05-23T13:43:07Z","timestamp":1148391787000},"page":"125-136","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":134,"title":["Acquired and inherited disorders of cobalamin and folate in children"],"prefix":"10.1111","volume":"134","author":[{"given":"V.","family":"Michael 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