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Acute paediatrics
Nature and nurture in vitamin B12 deficiency
  1. J Zschocke1,
  2. S Schindler3,
  3. G F Hoffmann2,
  4. M Albani3
  1. 1Institute of Human Genetics, Heidelberg University, Germany
  2. 2Division of Metabolic and Endocrine Diseases, Dept of Paediatrics, Heidelberg University, Germany
  3. 3Children's Hospital, Dr-Horst-Schmidt-Kliniken, Wiesbaden, Germany
  1. Correspondence to:
    Dr J Zschocke, Institute of Human Genetics, Im Neuenheimer Feld 344a, 69120 Heidelberg, Germany;
    johannes_zschocke{at}med.uni-heidelberg.de

Abstract

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.

  • vitamin B12 deficiency
  • MTHFR polymorphism
  • folate cycle
  • CSF, cerebrospinal fluid
  • MTHF, 5-methyltetrahydrofolate

https://doi.org/10.1136/adc.87.1.75

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