Metabolic Disorders Associated with Autism

Recent research has demonstrated that autism spectrum disorder is associated with several metabolic disorders, including disorders of redox, methylation, folate, purine, tetrahydrobiopterin, carnitine, amino acid and mitochondrial metabolism. The association with metabolic disorders is important as such disorders may be amenable to treatment if the disruption in the metabolic pathway is detected and understood. Although it is important to better understand the appropriate treatments that could theoretically improve function of these pathways, empirical evidence for such treatments is much more helpful in guiding clinical therapy. Studies have documented improvement in autism symptoms with many of these treatments in clinical studies which range from case reports to well-controlled randomized trials. This presentation will review the metabolic disorders associated with autism that could be amenable to treatment and the evidence for the potential treatments.


Richard E. Frye, MD, PhD

Dr. Richard Frye is a Child Neurologist with expertise in neurodevelopmental and neurometabolic disorders. He received an MD and PhD in Physiology and Biophysics from Georgetown University. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He also received a Masters in Biomedical Science and Biostatistics from Drexel University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 150 peer-reviewed publications and book chapters, and serves on several editorial boards.

He has lead several clinical studies on children with autism spectrum disorder (ASD), including studies focusing on defining the clinical, behavioral, cognitive, genetic and metabolic characteristics of children with ASD and mitochondrial disease. He has conducted several clinical trials demonstrating the efficacy of safe and novel treatments that target underlying physiological abnormalities in children with ASD.