Urinary porphyrin profiles and trace element imbalances in children with autism spectrum disorders : insights into environmental and metabolic biomarkers

Osredkar, Joško (avtor), Kumer, Kristina (avtor), Jekovec-Vrhovšek, Maja (avtor), Čuturič, Lidija (avtor), France Štiglic, Alenka (avtor), Fabjan, Teja (avtor)

Porphyrins are intermediates in heme biosynthesis and have been proposed as biomarkers of metabolic dysfunction and environmental exposure in autism spectrum disorder (ASD). This study aimed to evaluate urinary porphyrin fractions and trace element ratios in children with ASD compared to neurotypical controls. Urinary porphyrins were quantified using high-performance liquid chromatography (HPLC), and trace elements were measured via inductively coupled plasma mass spectrometry (ICP-MS) normalized to urinary creatinine. Trace element ratios (e.g., Zn/Cu, Se/Pb) were calculated. Statistical comparisons were made using the Mann–Whitney U-test. Children with ASD showed significantly elevated urinary levels of coproporphyrin (median: 1.94 µg/g creatinine vs. 1.32 in controls; p = 0.02) and pentacarboxyporphyrin (0.86 vs. 0.57; p = 0.01), and reduced hexacarboxyporphyrin (0.12 vs. 0.23; p = 0.03). Lead (Pb) levels were significantly higher in ASD (median: 1.96 µg/g creatinine vs. 0.82; p = 0.004), while mercury (Hg) was not significantly different. Several trace element ratios differed significantly: Zn/Cu (ASD 41.9 vs. controls 49.1; p = 0.021), Se/Pb (12.9 vs. 25.7; p = 0.002), Cu/Se (0.49 vs. 0.38; p = 0.008), and Zn/Pb (19.5 vs. 44.8; p = 0.002). The Hg/Se ratio did not differ significantly.: Children with ASD demonstrate altered porphyrin profiles and trace element imbalances, including increased Pb and disrupted Zn/Cu and Se/Pb ratios, indicating oxidative stress and impaired detoxification. Combined assessment of porphyrins and trace element ratios may provide valuable non-invasive biomarkers for environmental and metabolic disturbances in ASD.

• Jezik: Angleški jezik
• Ključne besede: autism spectrum disorder, porphyrins, lead, heme biosynthesis, environmental toxicants, biomarkers, trace elements, ICP-MS
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: FFA - Fakulteta za farmacijo
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2025
• Št. strani: 18 str.
• Številčenje: Vol. 26, iss. 21, [article no.] 10478
• PID: 20.500.12556/RUL-175985
• UDK: 616.896
• ISSN pri članku: 1422-0067
• DOI: 10.3390/ijms262110478
• COBISS.SI-ID: 257424643
• Datum objave v RUL: 17.11.2025

Gradivo je del revije

• Naslov: International journal of molecular sciences
• Skrajšan naslov: Int. j. mol. sci.
• Založnik: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: porfirini, svinec, biosinteza hema, okoljski toksini, biomarkerji, elementi v sledovih, ICP-MS, motnje avtističnega spektra, biološki označevalci

Projekti

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: P3-0124
• Naslov: Metabolni in prirojeni dejavniki reproduktivnega zdravja, porod III

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: J3-1756
• Naslov: Okoljski in genetski dejavniki pri motnjah avtističnega spektra