Article Text
Acute paediatrics
Nature and nurture in vitamin B12 deficiency
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