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Possible Folic Acid - Down Syndrome Link

Prevention advocates became very intrigued when they read the results of a new study looking into the link between Down syndrome and folic acid. Scientists recently reported their preliminary study findings and stated that mothers of children with Down syndrome often cannot efficiently metabolize the B vitamin, folic acid.

These researchers had found that almost 60% of the mothers of children with Down syndrome had a mutation which resulted in reduced efficiency of an important enzyme. This genetic abnormality hinders the metabolism of folic acid, and the defective process (known as maternal non-disjunction) actually occurs before conception and is responsible for 95% of all cases of Down syndrome, according to these scientists. About 80% of Down syndrome fetuses spontaneously abort, they reported.

The study was published in the October issue of the American Journal of Clinical Nutrition and identified the need to conduct a larger clinical study in order to refine the dose/effect of the vitamin folic acid as it relates to Down syndrome. The published study had involved 57 mothers of children with Down syndrome who were compared to 50 mothers of children whom did not have the disorder.

Down syndrome is a genetic disorder and almost always causes mental retardation and physical abnormalities. It is reported to be the most common genetic disorder, afflicting about one out of every 700 live-born babies. Affected children are at risk of having physical abnormalities such as a broad, flat face and slanting eyes and usually are at a high risk of heart defects, visual or hearing impairment.

Folic acid is a B vitamin found naturally in citrus fruits, leafy green vegetables, beans, peas, tuna, eggs, and other foods. Another source was introduced in 1998 by the federal Food and Drug Administration (FDA) when they imposed a folic acid fortification requirement onto the producers of such foods as wheat flour, corn meal, pasta and rice.

Currently it is known that a shortage of folic acid in the mother during pregnancy is strongly linked to neural tube defects, which also a major cause of birth defects. The purpose of the folic acid food additive initiative was to increase the amount of the vitamin which the average person might consume. The rationale was targeted at reducing the likelihood that a child might be born with a NTD. NTDs are known to be linked to a shortage of folic acid in mothers.

This is especially important for women of pregnancy age since they need that extra folic acid well before they get pregnant. It takes time for the human system to build up a reserve of the vitamin, and a lack of sufficient folic acid at the time the pregnancy begins may result in serious brain and spinal cord birth damage as the fetus develops. There have been hints that folic acid might play a role in other birth defects.

(Abnormal Folate Metabolism and Mutation in Methylenetetrahydrofolate Reductase Gene May Be Maternal Risk Factors for Down Syndrome; James, S. Jill, et al; American Journal For Clinical Nutrition, volume 70, number 4, October 1999)


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