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 supplementation, even if plasma concentrations are high.
Zschocke
J
J
Institute of Human Genetics, Heidelberg University, Germany. kawahara@pedsurg.med.osaka-u.ac.jp
Schindler
S
S
Hoffmann
G F
GF
Albani
M
M
D001942:Breast Feeding; D003128:Coma / Q000209:etiology; D003681:Dehydration / Q000209:etiology; D014676:Diet, Vegetarian; D005492:Folic Acid / Q000097:blood / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009122:Muscle Hypertonia / Q000209:etiology; D009154:Mutation / Q000235:genetics; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency / Q000235:genetics; D011110:Polymorphism, Genetic; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid* / Q000235:genetics; D014806:Vitamin B 12 Deficiency / Q000134:cerebrospinal fluid / Q000209:etiology* / Q000235:genetics
D013763:Tetrahydrofolates; D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C005984:5-methyltetrahydrofolate