Rare form of autism linked to lack of key nutrient

A mutation that prevents some amino acids, the building blocks of proteins, from entering the brain may lead to autism.

The number of people with the mutation is likely to be small. But for those individuals, injecting the amino acids into the brain might treat their autism. The results were published 1 December in Cell.

The findings add to a body of evidence suggesting that conditions that arise from thelack of a key nutrient can raise the risk of autism.

“The metabolic disorders are among the more treatable of human genetic conditions,” says Arthur Beaudet, professor of medical and human genetics at Baylor College of Medicine in Houston, Texas, who was not involved in the study. “If we have metabolic findings, it generally means that there is some potential for dietary manipulation or other intervention.”

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5th January 2017