The urinary 1 H‐NMR metabolomics profile of an italian autistic children population and their unaffected siblings
Abstract
Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of 1 H‐NMR metabolomics to analyze the global biochemical signature of ASD patients ( n = 21) and controls ( n = 21), these being siblings of autistic patients. A multivariate model has been used to extrapolate the variables of importance. The discriminating urinary metabolites were identified; in particular, significantly increased levels of hippurate, glycine, creatine, tryptophan, and d ‐threitol and decreased concentrations of glutamate, creatinine, lactate, valine, betaine, and taurine were observed in ASD patients. Based on the identified discriminant metabolites, the attention was focused on two possible mechanisms that could be involved in ASD: oxidative stress conditions and gut microflora modifications. In conclusion, nuclear magnetic resonance‐based metabolomics analysis of the urine seems to have the potential for the identification of a metabolic fingerprint of ASD phenotypes and appears to be suitable for further investigation of the disease mechanisms. Autism Res 2017 . © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1058–1066 . © 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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Metabolome studies have repeatedly shown evidence of alterations in tryptophan, kynurenine, and serotonin pathways in children with ASD, including increased urinary excretion of tryptophan and associated metabolites.
“Metabolome studies have repeatedly shown evidence of alterations in tryptophan, kynurenine, and serotonin pathways in children with ASD, including reports of increased urinary excretion of tryptophan and associated metabolites [63, 67, 68, 72, 105].”
From The Gut Microbiota and Dysbiosis in Autism Spectrum Disorders (2018) · cites this paper as [72]
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- Authors
- Lussu, M., Noto, A., Masili, A., Rinaldi, A. C., Dessì, A., De Angelis, M., De Giacomo, A., Fanos, V., Atzori, L., & Francavilla, R.
- Affiliations
- University of Cagliari (IT)
- Department of Soil, Plant and Food Sciences University of Bari Aldo Moro Bari Italy
- Child Neurological and Psychiatric Unit, Department of Neurological and Psychiatric Sciences University of Bari Aldo Moro Bari Italy
- University of Bari Aldo Moro (IT)
- Corresponding author
- Atzori, Luigi
- ORCID
- Venue
- Autism Research
- Publisher
- Wiley
- Published
- 2017-03-11
- Volume
- 10
- Issue
- 6
- Pages
- 1058-1066
- ISSN
- 1939-3792 (ISSN-L)
- 1939-3806
- OpenAlex
- W2591630902
- Cited by
- 67
- References
- 60
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 6 · 2023: 8 · 2022: 7 · 2021: 13 · 2020: 9 · 2019: 12 · 2018: 5
- FWCI
- 4.08
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Autism Research (publishedVersion)
- PubMed (publishedVersion)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gut microbiota and health
- Keywords
- autism spectrum disorder, urine metabolomics, 1H NMR metabolomics, children with autism, unaffected siblings, hippurate, glycine, creatine, tryptophan, glutamate, oxidative stress, gut microbiota, metabolic fingerprint, biomarkers
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Child, Child, Preschool, Female, Humans, Hydrogen, Italy, Male, Magnetic Resonance Spectroscopy, Biomarkers, Siblings, Metabolomics
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