Abstract
Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders accompanied by dysregulation of amino acid (AA) metabolism, and for which there are currently no reliable early diagnostic biomarkers. This study evaluated whether specific AAs can serve as biomarkers for screening ASD patients by analyzing the abundance 21 plasma AAs in 70 ASD patients and 70 control subjects by liquid chromatography–tandem mass spectrometry. We found significant differences between the two groups for eight of the AAs—namely, arginine, cysteine, homocysteine, histidine, methionine, serine, tyrosine, and valine. However, only homocysteine level was positively correlated with ASD symptom severity. Arginine, cysteine, histidine, and methionine were used to generate a predictive model in the Fisher discriminant analysis; cross-validation of this model showed that 88.6% of individuals were correctly segregated into ASD and healthy subject groups with a sensitivity of 85.5% and specificity of 92.2%. The area under the receiver operating characteristic curve was 0.959 (0.927–0.991). Thus, detection of a combination of AAs is an effective method for distinguishing ASD patients from healthy subjects, which may be useful for the early diagnosis of ASD.
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We thank all patients and their parents for their support and participation.
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This work was supported by the National Natural Science Foundation of China (No. 81773458) and Natural Science Foundation of Heilongjiang Province (No. LH2019H007).
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SX and LL did the literature review; DL and LW wrote the manuscript. YL and WX performed statistical analysis. CS and MZ assisted with the writing of the manuscript. All authors read, corrected, and approved the final manuscript.
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The study protocol was approved by the Institutional Review Board of Harbin Medical University for Medical Sciences. All experiments on human subjects were conducted in accordance with the Declaration of Helsinki. All procedures were carried out with the adequate understanding and written informed consent from the guardian of each participant prior to the study.
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Zou, M., Li, D., Wang, L. et al. Identification of Amino Acid Dysregulation as a Potential Biomarker for Autism Spectrum Disorder in China. Neurotox Res 38, 992–1000 (2020). https://doi.org/10.1007/s12640-020-00242-9
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DOI: https://doi.org/10.1007/s12640-020-00242-9