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