Branched Chain Amino Acids for Autism
Scientists have found that a certain form of autism which is accompanied by epilepsy (seizures or convulsions) may be potentially treatable using a common nutritional supplement containing branched chain amino acids (BCAA). The international team of researchers, led by scientists at the University of California, San Diego and Yale University schools of medicine have identified a genetic mutation in these patients which hastens the metabolism of certain amino acids, resulting in this type of autism.
Senior author Joseph G. Gleeson, MD, professor in the UC San Diego Department of Neurosciences, and colleagues examined cultured some cells from these patients and found they behaved normally in the presence of BCAAs, suggesting their condition might respond positively with nutritional supplementation.
To investigate this possibility, they used laboratory mice whose genes were engineered to have a similar mutation as children with autism and epilepsy. They found that the condition could be induced by reducing the dietary intake of BCAAs – the mice displayed autistic features as well as spontaneous seizures. They also observed that the condition could be reversed by amino acid supplementation. They found that if the mice were given the BCAA supplements their behaviors improved, suggesting that it could work with human patients, too.
The scientists reported that BCAA levels can be corrected in affected patients by using a nutritional supplement which can be given at a specific dose with no ill effects. The next step, they believe, is to determine if the supplement can help reduce the symptoms of autism and/or epilepsy in humans.
They also add that their study could become a basis for screening of all patients with autism and/or epilepsy for these genetic mutations, which could be an early predictor of the condition. Further research is needed to determine how many patients with these gene mutations could benefit from this treatment.
University of California, San Diego. Nutritional supplement offers promise in treatment of unique form of autism. ScienceDaily. Retrieved September 7, 2012.