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A research team led by scientists at the University of California, San Diego and Yale University schools of medicine, have discovered that nutritional supplements may be a useful treatment for a rare form of autism that presents with epilepsy. The study, published online in the journal Science, notes that autism that specifically presents, “With intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.” According to the research, around 1/4 of all patients with autism also suffer from epilepsy — and that their epilepsy may be caused by a gene mutation they have with autism which speeds up the metabolism of certain amino acids. The researchers on this study focused on amino acids called branched chain amino acids or BCAAs. Because BCAAs are acquired through diet, not naturally, when someone is starving, one’s body can turn off the metabolism of BCAAs. However, researchers found that the ability to shut down BCAA activity is defective in some autism patients.

autism, amino acids, epilepsy, autistic, brain development, nutritional supplements, supplements, autistic kids, autism and epilepsy

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When the researchers used nutritional supplements to treat mice with abnormal amino acid profiles and neurobehavioral deficits, the mice responded positively, leading researchers to believe the same may be achieved with human autism patients. Parents of kids with autism are often at a loss since there’s no real cure or perfect treatment available for brain development problems such as autism. This research is very promising, because if the issue lies in metabolic abnormalities and it’s possible to correct these abnormalities and improve symptoms, parents may have a new autism treatment tool at their disposal.

+ Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

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