A type of autism that includes epilepsy can potentially be treated with a common nutritional supplement, say an international team of researchers led by scientists at the University of California (UC), San Diego and the Yale University schools of medicine.
Approximately 25 percent of patients with autism also have epilepsy. Researchers analyzed the characteristics of the genome that makes proteins and examined cultural neural stem cells from patients.
The research team studied two closely related families whose children had autism spectrum disorder. The children had a history of abnormal electric brain wave activity or seizures.
The scientists observed that the children behaved normally when branched chain amino acids (BCAAs) were present, suggesting that nutritional supplements may help autistic people with epilepsy.
UC San Diego and Yale scientists used a technique called exome sequencing to determine that a gene mutation in some people with autism causes an acceleration in the metabolism of these amino acids. BCAAS are acquired through foods and are not produced by the human body. Human beings can turn off the metabolism of these amino acids during times of starvation, but researchers have found that some people with autism lack this ability.
“It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism,” said senior author Joseph G. Gleeson, MD, professor in the UCSD Department of Neurosciences and Howard Hughes Medical Institute investigator. “What was most exciting was that the potential treatment is obvious and simple. Just give affected patients the naturally occurring amino acids their bodies lack.”
The scientists reported that they could correct BCAA levels in the study participants by giving them a specific dosage of a nutritional supplement that can be purchased at a health food store. The supplement did not cause any ill effects. Gleeson said the next step in the research is to determine if the supplement helps reduce the symptoms of epilepsy and/or autism in humans.
“We think this work will establish a basis for future screening of all patients with autism and/or epilepsy for this or related genetic mutations, which could be an early predictor of the disease,” he said. “What we don’t know is how many patients with autism and/or epilepsy have mutations in this gene and could benefit from treatment, but we think it is an extremely rare condition.”
The research findings appear in the September 6, 2012 issue of Science.