释义 |
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). |