Amino Acids, Autism and Epilepsy

September 14, 2012

Guest post by Joseph Gleeson, M.D., professor of neuroscience at the University of California, San Diego

I want to thank Autism Speaks for giving us this opportunity to answer questions about our recent research report on branched chain amino acids and autism with epilepsy. 

I led a team of researchers at the University of California in San Diego (UCSD). We reported that some patients with the combination of autism and epilepsy suffer from a genetic mutation in the BCKDK gene. This mutation results in low levels of certain protein-building blocks called branched chain amino acids (BCAAs). We get BCAAs from our diet, so the implication is that patients with this disease might benefit from BCAA treatment.

We recently published our findings in the online edition of the journal Science. In the paper, we described how mice carrying the same mutated gene have symptoms resembling autism with epilepsy. When we fed them BCAAs, their condition reversed. When we supplemented the diet of people with mutations in the BCKDK gene, we raised BCAA levels in their blood. The study was not designed to test whether this increase in BCAA resulted in improved symptoms in the subjects.

These finding are exciting. They suggest a potentially treatable form of autism. But we stressed several caveats in our report:

* The type of autism and epilepsy we identified is very rare. Gene testing for the condition isn’t currently available. However, a doctor can order a test called serum amino acid profile, to look for BCAA deficiency.

* At present we have no evidence that the supplements will benefit individuals who have this form of autism and epilepsy or any other form of the disorder.

* While these supplements are available without prescription, they can be harmful to people with certain other disorders. We strongly recommend against taking them without proper medical supervision.

At the same time, we are hopeful that this treatment will benefit carefully screened individuals. Our lab wants to identify other individuals with the BCAA-deficiency form of autism with epilepsy and enroll them in a study to determine the effectiveness of the amino acid supplements. For more information about this trial, please email us at We are also interested in hearing if you have a child with autism and epilepsy, as we are trying to find other treatable causes. You can also visit our website at or call us at 858-822-3786.

Autism Speaks funds a broad array of research into the genetics and treatment/prevention of autism and related medical conditions such as epilepsy. You can explore these and other studies using our Grant Search.

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