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Overview of folic acid metabolism and the role of methylenetetrahydrofolate reductase (MTHFR). Critical metabolites with putative associations to disease are noted in boxes. Homocysteine accumulation is associated with cardiovascular and neural tube malformations; deoxyuridine monophosphate accumulation is associated with cancer. AdoMet, S-adenosylmethionine; THF, tetrahydrofolate; dUMP, deoxyuridine monophosphate; dTMP, deoxythymidine monophosphate.
