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Objectives Autism Spectrum Disorder is a neurodevelopmental disease with an average diagnosis age of over 3 years. Carnitine levels in ASD are important because they show potential mitochondrial dysfunction and abnormal fatty acid metabolism. In this study, in ASD children carnitine levels in dried blood spot samples were evaluated and compared with the control group. Methods Twentythree children diagnosed with ASD in Research and Training Hospital (19 boys, 4 girls) and age and gender matched 24 children without ASD were enrolled in this study. 17 carnitines in dried blood samples were measured with LC-MS/MS. Results C0, C2, C4-OH, C5, C5-OH, C6, C16, C18 carnitines were lower (p value 0.037, 0.010, 0.005, 0.032, 0.005, 0.003, 0.043, 0.003, respectively) and C18:1 carnitine was higher (p&lt;0.025) in ASD group compared with control group. Conclusions Comprehensive carnitine levels for ASD are important to establish a treatment protocol for the treatment of ASD behavior and severity. C18:1 carnitine, detected for the first time in the cases with ASD, is important for its high levels and for being a glycine transporter two inhibitor. In ASD cases, the molecular analysis might be suggested for enzymes involved in carnitine metabolism and for glycine transporter 2.

Evaluation of carnitine levels in dried blood spot samples in children with autism spectrum disorder