Branch Chain Amino Acid Deficiency Linked to Autism?
Some cases of autism are caused by mutations in the branched chain ketoacid dehydrogenase kinase (BCKDK) gene (1). The BCKDK gene is involved in the metabolism of branched-chain amino acids (BCAAs). In those with BCKDK deficiency, BCAAs are broken down too quickly, leading to depletion.(2) This, in turn, is linked to a neurodevelopmental disorder that includes autism, intellectual disability and microcephaly. Dietary changes, including supplementing with BCAAs, appears to be an effective treatment for some and, if started early, may even prevent autism from developing. BCAA Supplements May Benefit Autism In 2012, researchers found that supplementing with BCAAs reversed some of the associated neurological characteristics in mice, and explained: 3 “By supplementing the diet of human cases with BCAAs, we have been able to normalize their plasma BCAA levels, which suggests that it may be possible to treat patients with mutations in BCKDK with BCAA supplementation.” Joseph Gleeson, a profe...