Researchers have discovered that nutritional supplements may help treat a form of autism with epilepsy, according to a report from the University of California, San Diego.
Researchers say that approximately 25 percent of patients with autism also deal with epilepsy, which means that they suffer from seizures and convulsions. Researchers discovered that some autism patients have a gene mutation that quickens that metabolism of some amino acids. The researchers focused on branched chain amino acids or BCAAs (which must be obtained through diet).
“It was very surprising to find mutations in a potentially treatable metabolic pathway specific for autism,” said senior author Joseph Gleeson, professor in the UCSD Department of Neurosciences and Howard Hughes Medical Institute investigator, in a statement. “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.”
Researchers used exome sequencing to examine two families that have children with epileptic autism. These children also had a mutation in the gene that regulates BCAAs.
The researchers found that nutritional supplements helped correct BCAA levels in the study patients with no negative health effects. After testing mice, researchers say that additional studies need to be conducted to determine whether nutritional supplements will decrease the symptoms of epilepsy in humans with epileptic autism.
“Studying the animals was key to our discovery,” said first author Gaia Novarino, a staff scientist in Gleeson’s lab, in a statement. “We found that the mice displayed a condition very similar to our patients, and also had spontaneous epileptic seizures, just like our patients. Once we found that we could treat the condition in mice, the pressing question was whether we could effectively treat our patients.”
The results were published Thursday in the journal Science.