Acquired and inherited disorders of cobalamin and folate in children.

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Medline ® Abstract for Reference 40

of 'Etiology and clinical manifestations of vitamin B12 and folic acid

deficiency'

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40

TI Acquired and inherited disorders of cobalamin and folate in children.

AU Whitehead V

SO Br J Haematol. 2006 Jul;134(2):125-36.

 

  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-Grasbeck 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.

 

AD 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@...

PMID 16846473

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