Abstract
Objective. To investigate the role of toxic metabolites of aromatic amino acids (phenylalanine, tyrosine, and tryptophan) in autism spectrum disorders (ASD) pathogenesis and their relationship with intestinal dysbiosis.
Material and methods. The study included laboratory urine analysis results from 50 children with verified moderate-to-severe ASD diagnosis (mean age 7±4 years, 40 boys and 10 girls) and 29 conditionally healthy children. Organic acid determination was performed using gas chromatography-mass spectrometry (GC-MS). Analyzed metabolites included: 3-phenyllactic acid, para-hydroxyphenylpyruvic acid, para-hydroxyphenyllactic acid, homogentisic acid, kynurenic acid, xanthurenic acid, picolinic acid, quinolinic acid, and 3-indoleacetic acid. Statistical analysis included discriminant and ROC analysis.
Results. 16–52% of ASD children showed aromatic amino acid metabolite levels exceeding reference intervals, compared to 6–41% in controls. Most frequent elevations were para-hydroxyphenylpyruvic acid (52% children) and quinolinic acid (44% children). Statistical analysis revealed significant between-group differences for most indicators. ROC-analysis demonstrated high diagnostic significance of combined metabolite assessment (AUC = 0,828). Significant correlations were found between aromatic amino acid metabolites and intestinal dysbiosis markers.
Conclusion. The study demonstrates statistically significant elevation of toxic aromatic amino acid metabolites in ASD children versus controls, indicating metabolic imbalance. Correlations with dysbiosis markers emphasize the gut-brain axis importance in disease development. Results suggest prospects for GC-MS organic acid analysis in ASD metabolic monitoring and developing targeted therapeutic strategies.
Keywords
Authors and affiliations
https://elibrary.ru/omejkj
G.V. Larionov(1), A.N. Aleksandrenkova(1, 2), V.O. Generalov(1), T.P. Klyushnik(1), T.E. Obodzinskaya(1), L.A. Mamedov(1), S.G. Morozov(2)
1-Planetamed Clinic Medline LLC, Varshavskoye Shosse, 13, Building 2, Moscow, 117105, Russian Federation;
2-Research Institute of General Pathology and Pathophysiology, Baltiyskaya Street, 8, Moscow, 125315, Russian Federation
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