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Title:Urinary metabolomic profile in children with autism spectrum disorder
Authors:ID Osredkar, Joško (Author)
ID Kumer, Kristina (Author)
ID Godnov, Uroš (Author)
ID Jekovec-Vrhovšek, Maja (Author)
ID Vidova, Veronika (Author)
ID Price, Elliot James (Author)
ID Hrastel, Tara (Author)
ID Avguštin, Gorazd (Author)
ID Fabjan, Teja (Author)
Files:.pdf PDF - Presentation file, download (1,68 MB)
MD5: 09F15BFDD1F338920F88E766CD40485F
 
URL URL - Source URL, visit https://www.mdpi.com/1422-0067/26/5/2254
 
Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo UKC LJ - Ljubljana University Medical Centre
Abstract:Autism spectrum disorder (ASD) has been associated with disruptions in tryptophan (TRP) metabolism, affecting the production of key neuroactive metabolites. Investigating these metabolic pathways could yield valuable biomarkers for ASD severity and progression. We included 44 children with ASD and 44 healthy children, members of the same family. The average age in the ASD group was 10.7 years, while the average age in the control group was 9.4 years. Urinary tryptophan metabolites were quantified via liquid chromatography—mass spectrometry operating multiple reaction monitoring (MRM). Urinary creatinine was analyzed on an Advia 2400 analyzer using the Jaffe reaction. Statistical comparisons were made between ASD subgroups based on CARS scores. Our findings indicate that children with ASD have higher TRP concentrations (19.94 vs. 16.91; p = 0.04) than their siblings. Kynurenine (KYN) was found at higher levels in children with ASD compared to children in the control group (82.34 vs. 71.20; p = 0.86), although this difference was not statistically significant. The ASD group showed trends of higher KYN/TRP ratios and altered TRP/ indole-3-acetic acid (IAA) and TRP/5-hydroxyindoleacetic acid (5-HIAA) ratios, correlating with symptom severity. Although the numbers of the two groups were different, our findings suggest that mild and severe illnesses involve separate mechanisms. However, further comprehensive studies are needed to validate these ratios as diagnostic tools for ASD.
Keywords:autism spectrum disorder, tryptophan, kynurenine, CARS
Publication status:Published
Publication version:Version of Record
Year of publishing:2025
Number of pages:17 str.
Numbering:Vol. 26, issue 5, [article no.] 2254
PID:20.500.12556/DiRROS-28952 New window
UDC:616.896
ISSN on article:1422-0067
DOI:10.3390/ijms26052254 New window
COBISS.SI-ID:227890947 New window
Note:Nasl. z nasl. zaslona; Opis vira z dne 4. 3. 2025;
Publication date in DiRROS:14.04.2026
Views:113
Downloads:80
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Record is a part of a journal

Title:International journal of molecular sciences
Shortened title:Int. j. mol. sci.
Publisher:MDPI
ISSN:1422-0067
COBISS.SI-ID:2779162 New window

Document is financed by a project

Funder:ARIS - Slovenian Research and Innovation Agency
Project number:P3-0124-2020
Name:Metabolni in prirojeni dejavniki reproduktivnega zdravja, porod III

Funder:ARIS - Slovenian Research and Innovation Agency
Project number:J3-1756-2019
Name:Okoljski in genetski dejavniki pri motnjah avtističnega spektra

Funder:Other - Other funder or multiple funders
Funding programme:Ministry of Education, Youth and Sports of the Czech Republic
Project number:LM2023069
Name:RECETOX Research Infrastructure

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

Language:Slovenian
Keywords:triptofan, kinurenin, CARS, nevroaktivni metaboliti


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