Acquired and inherited disorders of cobalamin and folate in children
- 16 June 2006
- journal article
- review article
- Published by Wiley in British Journal of Haematology
- Vol. 134 (2), 125-136
- https://doi.org/10.1111/j.1365-2141.2006.06133.x
Abstract
Cobalamin deficiency in the newborn usually results from cobalamin deficiency in the mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present, accompanied by neurological deficits if the diagnosis is delayed. 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-Gräsbeck syndrome) and transport (transcobalamin deficiency) as well as its intracellular metabolism affecting adenosylcobalamin synthesis (cblA and cblB), methionine synthase function (cblE and cblG) or both (cblC, cblD and cblF). Inborn errors of folate metabolism include congenital folate malabsorption, severe methylenetetrahydrofolate reductase deficiency and formiminotransferase deficiency. The identification of disease-causing mutations in specific genes has improved our ability to diagnose many of these conditions, both before and after birth.Keywords
This publication has 101 references indexed in Scilit:
- Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transportMolecular Genetics and Metabolism, 2005
- Prenatal and postnatal treatment in cobalamin C defectThe Journal of Pediatrics, 2005
- Changes in the birth prevalence of selected birth defects after grain fortification wiht folic acid in the United States: Findings from a multi-state population-based studyBirth Defects Research Part A: Clinical and Molecular Teratology, 2005
- Meta-analysis of MTHFR 677C→ T polymorphism and coronary heart disease: does totality of evidence support causal role for homocysteine and preventive potential of folate?BMJ, 2005
- High prevalence of folic acid and vitamin B12 deficiencies in infants, children, adolescents and pregnant women in VenezuelaEuropean Journal of Clinical Nutrition, 2005
- Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese populationBirth Defects Research Part A: Clinical and Molecular Teratology, 2005
- Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United KingdomBirth Defects Research Part A: Clinical and Molecular Teratology, 2004
- Neural-Tube DefectsThe New England Journal of Medicine, 1999
- Prevention of Neural-Tube Defects with Folic Acid in ChinaThe New England Journal of Medicine, 1999
- Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin SupplementationThe New England Journal of Medicine, 1992