In May 2012 Arthur Beaudet, a geneticist at Baylor College of Medicine, Houston, TX, and a member of the National Academy of Sciences, reported a preliminary link between the deficiency of a gene that helps cells synthesize a biomolecule called carnitine and the risk of autism in some boys. Beaudet’s 2012 Inaugural Article (1) in PNAS raised the possibility that carnitine—a fatty acid-ferrying molecule that cells derive through diet or make anew—might influence the risk of autism. Beaudet’s findings have yet to be independently validated, but they have opened an avenue of investigation that approaches autism as an inborn error of metabolism, suggesting that some forms of autism may turn out to be preventable. Beaudet has long been recognized for his contributions to the genetic diagnosis of developmental disorders, and here he discusses the implications of his work on autism with PNAS.
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