S.24.01 Rare mutations in N-methyl-D-aspartate glutamate receptors in schizophrenia and autism spectrum disorders

Abstract

Despite of the great efforts that move forward to clarify the pathophysiologic mechanisms in autism, the cause of this disorder, however, remains largely unknown. There is an increasing body of literature concerning neurochemical contributions to the pathophysiology of autism. We aimed to determine blood and brain levels of glutamate in children with autistic disorder and to correlate between them. The study included 10 children with autism and 10 age- and sex-matched healthy controls. Blood glutamate levels were measured using high performance liquid chromatography technique. Brain glutamate levels were measured using proton magnetic resonance spectroscopy. The mean blood and brain glutamate levels were significantly higher in patients than controls (p < 0.001). There was highly significant positive correlation between blood glutamate level and brain glutamate levels in the four tested brain regions (p < 0.001). Glutamate plays an important role in the pathogenesis of autism. Further larger studies are required to support our findings.