Nature and nurture in vitamin B12 deficiency.
Zschocke J, Schindler S, Hoffmann GF, Albani M.
Institute of Human Genetics, Heidelberg University, Germany. kawahara@pedsurg.med.osaka-u.ac.jp
We report on a child in whom severe nutritional vitamin B12 deficiency was exacerbated by a genetic impairment of the folate cycle, causing reduced CSF concentrations of the methyl group donor 5-methyltetrahydrofolate. Some patients with vitamin B12 deficiency may benefit from high dose folic acid supplementation, even if plasma concentrations are high.
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PMID: 12089131 [PubMed - indexed for MEDLINE]PMCID: PMC1751157