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Branch Chain Amino Acid Deficiency Linked to Autism?

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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...

New Research Validates Autism’s Link to Gut

Researchers have identified a microbial signature for autism spectrum disorder, a critical finding that offers clarity about how the gut microbiome influences this neurological syndrome. The data-driven study published by 43 researchers challenges the idea that autism is a primarily genetic condition and suggests that environmental factors may be behind the sharp rise in the debilitating condition. The  trillions of microbes  (bacteria, viruses, fungi, and other microorganisms) that populate the gut microbiome are the basis of that microbial signature. Other research has found that having more microbes and greater diversity is associated with health and lower disease risk. Among other tasks, gut bacteria metabolize fiber and create metabolites that facilitate digestion, brain functions, and more. The study involved reanalyzing 25 previously published datasets to find autism-specific metabolic pathways that could be linked to particular gut microbes. Originated at the Simo...

Children With Special Needs: Helpful Resources for Parents (2023)

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