folate-sensitive neural tube defects

folate-sensitive neural tube defects

A condition (OMIM:601634) caused by defects in various genes that encode proteins involved in folate and homocysteine metabolism, including 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR) and methylenetetrahydrofolate dehydrogenase-1 (MTHFD1).
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