Nature and nurture in vitamin B12 deficiency

Arch Dis Child. 2002 Jul;87(1):75-6. doi: 10.1136/adc.87.1.75.

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.

Publication types

  • Case Reports

MeSH terms

  • Breast Feeding*
  • Coma / etiology
  • Dehydration / etiology
  • Diet, Vegetarian*
  • Folic Acid / blood
  • Folic Acid / genetics
  • Humans
  • Infant
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Muscle Hypertonia / etiology
  • Mutation / genetics
  • Oxidoreductases Acting on CH-NH Group Donors / deficiency
  • Oxidoreductases Acting on CH-NH Group Donors / genetics
  • Polymorphism, Genetic
  • Tetrahydrofolates / cerebrospinal fluid*
  • Tetrahydrofolates / genetics
  • Vitamin B 12 Deficiency / cerebrospinal fluid
  • Vitamin B 12 Deficiency / etiology*
  • Vitamin B 12 Deficiency / genetics

Substances

  • Tetrahydrofolates
  • Folic Acid
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • 5-methyltetrahydrofolate