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Plasma Metabolic Features Associated with Developmental Regression in Autism Spectrum Disorder: A Pilot Untargeted
Cihan Aslan1, Ozan Kaplan2, Nadir Yalçın3
1Department of Child and Adolescent Psychiatry, Faculty of Medicine, Hacettepe University, Ankara 06230, Türkiye.
International Journal of Molecular Sciences
|August 13, 2026
Summary
This study explored metabolic differences in children with autism spectrum disorder (ASD) and developmental regression. Key plasma metabolites, including prostaglandin E3, were significantly altered, suggesting new research avenues for ASD.
Area of Science:
- Biochemistry
- Neuroscience
- Metabolomics
Background:
- Developmental regression affects 20-40% of children with autism spectrum disorder (ASD), characterized by loss of language and social skills.
- The metabolic basis for regression in ASD remains poorly understood, with prior studies focusing on limited metabolic pathways.
Purpose of the Study:
- To investigate plasma metabolomic profiles in children with regressive ASD (REG+), non-regressive ASD (REG-), and typically developing controls.
- To identify novel metabolic biomarkers associated with developmental regression in ASD.
Main Methods:
- Untargeted quantitative time-of-flight liquid chromatography-mass spectrometry (Q-TOF LC/MS) was used to profile plasma samples from 25 REG+, 27 REG-, and 21 control children (aged 2-6 years).
- A rigorous curation pipeline involving statistical significance, analytical plausibility, and literature alignment was applied to 6657 detected features, prioritizing 14 annotated metabolic features.
- Exploratory Partial Least-Squares Discriminant Analysis (PLS-DA) was used for group separation visualization.
Main Results:
- A panel of 14 prioritized metabolic features showed abundance differences among the three groups.
- Putative prostaglandin E3 (PGE3) was significantly reduced in REG+ compared to controls.
- Decreased levels of N-Acetylneuraminosyl-(α2-6)lactosamine and aspartylglycosamine were observed in REG+.
- Sphingolipid-myelin metabolites showed coordinated alterations in both ASD groups, while DHEA-S showed a marked difference between REG+ and REG- groups.
Conclusions:
- This exploratory study identified distinct plasma metabolic profiles associated with developmental regression in ASD.
- The findings highlight prostaglandin E3, N-Acetylneuraminosyl-(α2-6)lactosamine, and aspartylglycosamine as potential biomarkers.
- Further validation with authenticated standards and larger cohorts is necessary to establish diagnostic or therapeutic relevance.
