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In 2012, researchers found a connection between amino acid (AA) metabolism and autism when a mutation producing low levels of peripheral branched-chain AAs (BCAAs) was discovered in several patients with a syndrome of autism, epilepsy, and intellectual impairment (Science 2012; 338:394). In another child with a BCAA pathway mutation, a protein-heavy diet supplemented with BCAAs led to modest improvements in behavior and normalization of brain myelination (Hum Mutat 2014; 35:470). Expanding on these findings, researchers studied plasma AAs in 516 children with autism spectrum disorder (ASD; age range, 18–48 months; mean age, 36 months; 78% male) and 156 closely matched neurotypical controls. Comorbid disorders were not reported.
Plasma levels…