Identification of Amino Acid Dysregulation as a Potential Biomarker for Autism Spectrum Disorder in China
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ORIGINAL ARTICLE
Identification of Amino Acid Dysregulation as a Potential Biomarker for Autism Spectrum Disorder in China Mingyang Zou 1 & Dexin Li 2 & Luxi Wang 1 & Ling Li 1 & Shu Xie 1 & Yu Liu 1 & Wei Xia 1 & Caihong Sun 1 & Lijie Wu 1 Received: 27 February 2020 / Revised: 10 June 2020 / Accepted: 12 June 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
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. Keywords Autism spectrum disorders . Amino acid . Liquid chromatography–tandem mass spectrometry . Fisher discriminant analysis . Biomarker
Introduction Autism spectrum disorders (ASD) are a series of mental disorders that occur in early life. The core symptoms include difficulties with social interactions, a narrow range of interests, and repetitive stereotyped behavior (American Psychiatric Association, 2013, Baio et al, 2018). According to the US Centers for Disease Control, in 2020, about 1/54
children were diagnosed with ASD, a nearly 10% increase over 2018 when the estimate was 1 in 59 (Maenner et al. 2020), with boys being four times more likely to be diagnosed. The prevalence in mainland China is around 1%, which is comparable to the rates in western countries (Sun et al. 2019). Autistic children may require life-long care, which places a heavy financial and psychological burden on the family and on the society. Although the etiology of ASD is
* Caihong Sun [email protected]
Shu Xie [email protected]
* Lijie Wu [email protected]
Yu Liu [email protected]
Mingyang Zou [email protected]
Wei Xia [email protected]
Dexin Li [email protected] Luxi Wang [email protected] Ling Li [email protected]
1
Department of Children’s and Adolescent Health, Public Health College, Harbin Medical University, Harbin 150081, China
2
Zhuhai Municipal Maternity and Child Healthcar
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