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Acquired and inherited disorders of cobalamin and folate in children.
Br J Haematol. 2006 Jul; 134(2):125-36.BJ

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.

Authors+Show Affiliations

The Hematology Service, Montreal Children's Hospital and the McGill University-Montreal Children's Hospital Research Institute of the McGill University Health Center, Montreal, QC, Canada. vmwhitehead@citenet.net

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

16846473

Citation

Whitehead, V Michael. "Acquired and Inherited Disorders of Cobalamin and Folate in Children." British Journal of Haematology, vol. 134, no. 2, 2006, pp. 125-36.
Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. 2006;134(2):125-36.
Whitehead, V. M. (2006). Acquired and inherited disorders of cobalamin and folate in children. British Journal of Haematology, 134(2), 125-36.
Whitehead VM. Acquired and Inherited Disorders of Cobalamin and Folate in Children. Br J Haematol. 2006;134(2):125-36. PubMed PMID: 16846473.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acquired and inherited disorders of cobalamin and folate in children. A1 - Whitehead,V Michael, PY - 2006/7/19/pubmed PY - 2006/8/5/medline PY - 2006/7/19/entrez SP - 125 EP - 36 JF - British journal of haematology JO - Br J Haematol VL - 134 IS - 2 N2 - 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. SN - 0007-1048 UR - https://www.unboundmedicine.com/medline/citation/16846473/Acquired_and_inherited_disorders_of_cobalamin_and_folate_in_children_ L2 - https://doi.org/10.1111/j.1365-2141.2006.06133.x DB - PRIME DP - Unbound Medicine ER -