Methods for identifying metabolic signatures in blood plasma which are unique to autism are described herein. Samples are analyzed using multiple chromatographic-mass spectrometry-based techniques to orthogonally measure a broad range of small molecular weight metabolites differentially produced in autistic patient samples versus non-autistic control samples. These individual metabolites or a panel of such metabolites serve as metabolic signatures of autism. Such metabolic signatures are used in diagnostic methods to accurately identify individuals with autism spectrum disorder (ASD).
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