Metabolic alterations in pediatric obstructive sleep apnea syndrome: Insights from acylcarnitines profiling

Background: Obstructive Sleep Apnea Syndrome (OSAS) is increasingly recognized as a serious, worldwide public health concern characterized by significant systemic consequences, primarily metabolic dysfunction driven by intermittent hypoxia (IH). The specific metabolic phenotype of pediatric OSAS remains largely unexplored, as the pediatric form differs substantially from the adult phenotype. To address this gap, this pilot investigation sought to characterize plasma acylcarnitine signatures in a children cohort using tandem mass spectrometry. Methods: We analyzed 27 plasma acylcarnitines in 11 children (4–10 years) with polysomnography-confirmed moderate-to-severe OSAS using FIA-MS/MS. The resulting data were compared to age-stratified reference limits for the pediatric population. Results: Our data reveal a severe and statistically significant depletion exclusively in two species, Acetylcarnitine (C2) and Octenoylcarnitine (C8:1), compared to age-matched reference values, which remained significant even after stringent False Discovery Rate (FDR) correction. Conclusion: Our study has provided important insights into the pediatric OSAS metabolic landscape, albeit based on a small sample size. We observed a selective reduction of circulating C2 and C8:1 in children with OSAS, proposing them as intriguing biomarkers and/or possible targets of nutritional intervention, warranting further investigation.