Nature and nurture in vitamin B12 deficiency
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 s...
Gespeichert in:
| Hauptverfasser: | , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
July 01, 2002
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| In: |
Archives of disease in childhood
Year: 2002, Jahrgang: 87, Heft: 1, Pages: 75-76 |
| ISSN: | 1468-2044 |
| DOI: | 10.1136/adc.87.1.75 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/adc.87.1.75 Verlag, lizenzpflichtig, Volltext: https://adc.bmj.com/content/87/1/75 |
| Verfasserangaben: | J. Zschocke, S. Schindler, G.F. Hoffmann, M. Albani |
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| 520 | |a 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. | ||
| 650 | 4 | |a CSF, cerebrospinal fluid | |
| 650 | 4 | |a folate cycle | |
| 650 | 4 | |a MTHF, 5-methyltetrahydrofolate | |
| 650 | 4 | |a MTHFR polymorphism | |
| 650 | 4 | |a vitamin B12 deficiency | |
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