A targeted metabolomic study investigating alterations in urine
metabolites of Slovak children with autism spectrum disorders

J 2025

A targeted metabolomic study investigating alterations in urine metabolites of Slovak children with autism spectrum disorders

REPISKA, Gabriela; Andrej KOVAC; Ivan BELICA; Jaroslava BABKOVA; Katarina JANSAKOVA et al.

Základní údaje

Originální název

A targeted metabolomic study investigating alterations in urine metabolites of Slovak children with autism spectrum disorders

Autoři

REPISKA, Gabriela; Andrej KOVAC; Ivan BELICA; Jaroslava BABKOVA; Katarina JANSAKOVA; Maria VIDOSOVICOVA; Stanislav KATINA; Jaroslav GALBA; Daniela OSTATNIKOVA a Katarina BABINSKA

Vydání

ACTIVITAS NERVOSA SUPERIOR REDIVIVA, BRATISLAVA, SLOVAK ACAD SCIENCES, INST NORMAL & PATHOLOGICAL PHYSIOLOGY, 2025, 1337-933X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30103 Neurosciences

Stát vydavatele

Slovensko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 0.200 v roce 2024

Označené pro přenos do RIV

Ano

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

autism spectrum disorder; target metabolomics; urine; biomarker; acylcarnitines

Štítky

14311010, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 31. 3. 2026 12:33, Mgr. Marie Novosadová Šípková, DiS.

Anotace

V originále

Autism spectrum disorders (ASD) are neurodevelopmental conditions with increasing prevalence and still not fully explained pathomechanism. Aimed at the clarification of the pathophysiology of this heterogeneous disease and detection of the potential biomarkers, we have focused on the metabolomic analysis of urine samples in patients with ASD and typically developing children. The targeted metabolomic analysis was carried out using a quantitative LC-MS/MS method performed by combining flow injection mass spectrometry analysis with a LC-MS/MS assay (AbsoluteIDQ p180Kit; Biocrates Life Sciences, Austria). Our results have shown three altered metabolites in ASD patients (p < 0.05). We found significantly higher mean levels of pimelylcarnitine (C7-DC) and glycerophospholipid PCaaC34:1, and significantly lower levels of nonanoylcarnitine (C9) in urine of ASD children compared to healthy controls. The changes in the acylcarnitine spectrum detected in our study may indicate potential mitochondrial dysfunction and imbalance in fatty acid metabolism, that have previously been reported in ASD. Our results suggest that acylcarnitines could have the potential to become a biomarker for ASD, but their diagnostic sensitivity and disease-specificity need to be investigated in more detail and validated on larger set of patients.

Citovat

REPISKA, Gabriela; Andrej KOVAC; Ivan BELICA; Jaroslava BABKOVA; Katarina JANSAKOVA; Maria VIDOSOVICOVA; Stanislav KATINA; Jaroslav GALBA; Daniela OSTATNIKOVA a Katarina BABINSKA. A targeted metabolomic study investigating alterations in urine metabolites of Slovak children with autism spectrum disorders. ACTIVITAS NERVOSA SUPERIOR REDIVIVA. BRATISLAVA: SLOVAK ACAD SCIENCES, INST NORMAL & PATHOLOGICAL PHYSIOLOGY, 2025, roč. 67, č. 3, s. 116-121. ISSN 1337-933X. Dostupné z: https://doi.org/10.31577/ansr.2025.67.3.3.

@article{2551961,
   author = {Repiska, Gabriela and Kovac, Andrej and Belica, Ivan and Babkova, Jaroslava and Jansakova, Katarina and Vidosovicova, Maria and Katina, Stanislav and Galba, Jaroslav and Ostatnikova, Daniela and Babinska, Katarina},
   article_location = {BRATISLAVA},
   article_number = {3},
   doi = {https://doi.org/10.31577/ansr.2025.67.3.3},
   keywords = {autism spectrum disorder; target metabolomics; urine; biomarker; acylcarnitines},
   language = {eng},
   issn = {1337-933X},
   journal = {ACTIVITAS NERVOSA SUPERIOR REDIVIVA},
   title = {A targeted metabolomic study investigating alterations in urine metabolites of Slovak children with autism spectrum disorders},
   url = {https://rediviva.sav.sk/67i3/116.pdf},
   volume = {67},
   year = {2025}
}

TY  - JOUR
ID  - 2551961
AU  - Repiska, Gabriela - Kovac, Andrej - Belica, Ivan - Babkova, Jaroslava - Jansakova, Katarina - Vidosovicova, Maria - Katina, Stanislav - Galba, Jaroslav - Ostatnikova, Daniela - Babinska, Katarina
PY  - 2025
TI  - A targeted metabolomic study investigating alterations in urine metabolites of Slovak children with autism spectrum disorders
JF  - ACTIVITAS NERVOSA SUPERIOR REDIVIVA
VL  - 67
IS  - 3
SP  - 116-121
EP  - 116-121
PB  - SLOVAK ACAD SCIENCES, INST NORMAL & PATHOLOGICAL PHYSIOLOGY
SN  - 1337933X
KW  - autism spectrum disorder
KW  - target metabolomics
KW  - urine
KW  - biomarker
KW  - acylcarnitines
UR  - https://rediviva.sav.sk/67i3/116.pdf
N2  - Autism spectrum disorders (ASD) are neurodevelopmental conditions with increasing prevalence and still not fully explained pathomechanism. Aimed at the clarification of the pathophysiology of this heterogeneous disease and detection of the potential biomarkers, we have focused on the metabolomic analysis of urine samples in patients with ASD and typically developing children. The targeted metabolomic analysis was carried out using a quantitative LC-MS/MS method performed by combining flow injection mass spectrometry analysis with a LC-MS/MS assay (AbsoluteIDQ p180Kit; Biocrates Life Sciences, Austria). Our results have shown three altered metabolites in ASD patients (p < 0.05). We found significantly higher mean levels of pimelylcarnitine (C7-DC) and glycerophospholipid PCaaC34:1, and significantly lower levels of nonanoylcarnitine (C9) in urine of ASD children compared to healthy controls. The changes in the acylcarnitine spectrum detected in our study may indicate potential mitochondrial dysfunction and imbalance in fatty acid metabolism, that have previously been reported in ASD. Our results suggest that acylcarnitines could have the potential to become a biomarker for ASD, but their diagnostic sensitivity and disease-specificity need to be investigated in more detail and validated on larger set of patients.
ER  -

REPISKA, Gabriela; Andrej KOVAC; Ivan BELICA; Jaroslava BABKOVA; Katarina JANSAKOVA; Maria VIDOSOVICOVA; Stanislav KATINA; Jaroslav GALBA; Daniela OSTATNIKOVA a Katarina BABINSKA. A targeted metabolomic study investigating alterations in urine metabolites of Slovak children with autism spectrum disorders. \textit{ACTIVITAS NERVOSA SUPERIOR REDIVIVA}. BRATISLAVA: SLOVAK ACAD SCIENCES, INST NORMAL \&{} PATHOLOGICAL PHYSIOLOGY, 2025, roč.~67, č.~3, s.~116-121. ISSN~1337-933X. Dostupné z: https://doi.org/10.31577/ansr.2025.67.3.3.

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