health conditions






 

Question by  Chris46 (25)

What is a MTHFR gene mutation?

I was told I needed to be tested for it.

 
+6

Answer by  Veetzy (376)

Methylenetetrahydrofolate reductase (MTHFR) is a genetic mutation that inhibits the absorption of folic acid. 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. Also, miscarriage and clotting disorders are not uncommon with this mutation.

 
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Answer by  Loyola (378)

MTHFR is short 5,10-ethylenetetrahydrofolate reductase. This mutation prevents the production of enzymes needed to make amino acids, the building blocks of protein. The results are especially problematic for pregnancies.

 
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Answer by  EmmaKitty (236)

MTHFR gene mutation is a rare genetic defect that causes pregnancy complications, such as miscarriage and chromosomal abnormalities (e. g. Downs Syndrome). The gene mutation inhibits folic acid absorption.

 
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