A Rare, But Potentially Treatable Form of Autism

Researchers at the University of California, San Diego, have identified a rare, hereditary form of autism that may be treatable with nutritional supplements, a new study reports.
The scientists sequenced the genomes of six children with both autism and epilepsy from three Middle Eastern families — in each case, the children’s parents were first cousins — and found that they had mutations in a gene that normally prevents the breakdown of certain amino acids. The end result is that children had low levels of these proteins — known as branched chain amino acids — which the body doesn’t make on its own and must be gotten through food.