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Carnitine deficiency suggested as contributor to autism

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By Life Extension • • July 28, 2017

Carnitine deficiency suggested as contributor to autism
Reprinted with the kind permission of Life Extension.

July 19 2017. In an article appearing on July 13, 2017 in BioEssays, Arthur L. Beaudet of Baylor College of Medicine submits the hypothesis that a lack of carnitine, a compound synthesized in the body from lysine, could be behind some cases of autism.  “We believe there are compelling reasons to think that brain deficiency of carnitine and perhaps other micronutrients such as essential polyunsaturated fatty acids can cause autism with an extreme male bias, and that 10–20% of cases of autism could be prevented by changes in infant nutrition,” he writes.

In 2009, Patricia Celestino-Soper discovered that 1 in 350 males are unable to synthesize their own carnitine due to an inactive copy of the X chromosome gene TMLHE. "Of the nearly 460,000 males in the United States who have TMLHE gene deficiency, only about 3 percent develop autism,” Dr Beaudet noted. “The remaining 97 percent become healthy adults. Sometimes behavioral regression occurs."

While TMLHE deficiency occurs in approximately 1% of autistics, Dr Beaudet believes that brain carnitine deficiency could be behind a greater number of cases. "We speculate that the individuals with a normal physical examination and normal brain imaging results in studies, which represents 10% to 20% of all cases of autism spectrum disorders, might have in common a mechanism that leads to a mild form of autism,” he explained. “This mechanism might involve brain carnitine deficiency."

"In many cultures, when the infant is introduced to new foods between 4 and 8 months of age, the first non-milk foods are fruits, juices, cereals and vegetables, all of which contain almost no carnitine, and meats are introduced later," Dr Beaudet added. "We now know that 1 in 350 males indeed cannot synthesize carnitine. The need for an RDA for carnitine perhaps should be reviewed."

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