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

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

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.

• Language: English
• Keywords: autism spectrum disorder, porphyrins, lead, heme biosynthesis, environmental toxicants, biomarkers, trace elements, ICP-MS
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: FFA - Faculty of Pharmacy
• Publication status: Published
• Publication version: Version of Record
• Year: 2025
• Number of pages: 18 str.
• Numbering: Vol. 26, iss. 21, [article no.] 10478
• PID: 20.500.12556/RUL-175985
• UDC: 616.896
• ISSN on article: 1422-0067
• DOI: 10.3390/ijms262110478
• COBISS.SI-ID: 257424643
• Publication date in RUL: 17.11.2025

Record is a part of a journal

• Title: International journal of molecular sciences
• Shortened title: Int. j. mol. sci.
• Publisher: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: porfirini, svinec, biosinteza hema, okoljski toksini, biomarkerji, elementi v sledovih, ICP-MS, motnje avtističnega spektra, biološki označevalci

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P3-0124
• Name: Metabolni in prirojeni dejavniki reproduktivnega zdravja, porod III

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: J3-1756
• Name: Okoljski in genetski dejavniki pri motnjah avtističnega spektra