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MTHFR Gene Mutation

June 21st 2011 13:24
MTHFR gene mutation is a rare genetic defect that causes pregnancy complications, such as miscarriage and chromosomal abnormalities (e. g. Downs Syndrome). MTHFR is short 5,10-ethylenetetrahydrofolate reductase. Methylenetetrahydrofolate reductase (MTHFR) is a genetic mutation that inhibits the absorption of folic acid. This mutation prevents the production of enzymes needed to make amino acids, the building blocks of protein. Lack of folic acid in a pregnant woman results in an increased incidence of Downs Syndrome, Spina Bifida, neural tube defects or other congenital anomalies.



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