Amino Acid Dysregulation Metabotypes Diagnostic for Autism Spectrum Disorder – AAN 2018
Amino Acid Dysregulation Metabotypes Diagnostic for Autism Spectrum Disorder – AAN 2018
Presented at the American Academy of Neurology at Los Angeles, California, April 2018
Autism Spectrum Disorder (ASD) is behaviorally and biologically heterogeneous and likely represents a series of conditions arising from different underlying genetic, metabolic, and environmental factors. Metabolism based analysis can identify metabolites associated with an individual’s inherited biochemistry as well as capture the interactions of the gut microbiome, dietary, and environmental factors. We designed the Children’s Autism Metabolome Project (CAMP), which enrolled 1100 subjects ages 18 to 48 months, to discover clinically significant metabolic phenotypes associated with ASD. We conducted quantitative LC-MS/MS to identify metabolic subtypes able to stratify ASD into groups based on shared metabolic phenotypes. A metabotype based test can support earlier diagnosis, development and selection of more precise therapeutic interventions, as well as better understanding of the efficacy of current interventions within metabotypes.