Li, D. et al. Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency. Journal of Inherited Metabolic Disease Volume 31, Number 3 / June, 2008
In a mouse model of severe MTHFR deficiency, Mefolinate administration to the mother improved survival and cerebellar morphology in the pups. This agent could potentially be used eventually in clinical trials for the rare patients with severe MTHFR deficiency.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator