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Urinary Porphyrin Profiles and Trace Element Imbalances in Children with Autism Spectrum Disorders: Insights into Environmental and Metabolic Biomarkers.

International journal of molecular sciences2025

Osredkar Joško, Kumer Kristina, Jekovec Vrhovšek Maja, Čuturić Lidija, France Štiglic Alenka, Fabjan Teja

What this study means for families

Researchers tested urine samples from children with autism and compared them to typical children. They found that autistic children had different levels of certain chemicals in their urine, including higher lead levels and imbalanced minerals like zinc and copper. These differences might indicate that children with autism have more difficulty processing toxins and may experience more oxidative stress in their bodies.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Research summary

This study examined urine samples from children with autism spectrum disorder (ASD) compared to neurotypical controls to measure porphyrin compounds and trace elements. Children with ASD showed significantly altered porphyrin profiles, including elevated coproporphyrin and pentacarboxyporphyrin, and reduced hexacarboxyporphyrin levels. Trace element analysis revealed higher lead levels and disrupted ratios of zinc/copper and selenium/lead in the ASD group. The researchers suggest these findings indicate oxidative stress and impaired detoxification processes in children with ASD.

The combined assessment of porphyrins and trace element ratios may serve as non-invasive biomarkers for environmental and metabolic disturbances associated with autism.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Key findings

  • 1

    Children with ASD had significantly elevated coproporphyrin (1.94 vs 1.32 µg/g creatinine) and pentacarboxyporphyrin (0.86 vs 0.57) levels

    Confidence: moderateRelevance: May indicate metabolic dysfunction and altered heme biosynthesis in autism
  • 2

    Lead levels were significantly higher in children with ASD (1.96 vs 0.82 µg/g creatinine)

    Confidence: moderateRelevance: Suggests potential environmental exposure differences or impaired detoxification
  • 3

    Multiple trace element ratios were disrupted including Zn/Cu, Se/Pb, Cu/Se, and Zn/Pb ratios

    Confidence: moderateRelevance: Indicates oxidative stress and potential mineral metabolism imbalances

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Clinical implications

Findings suggest potential biomarkers for metabolic and environmental disturbances in ASD, but clinical utility unclear. May inform future research into detoxification pathways and mineral supplementation, though causation not established. Requires replication in larger studies before clinical application.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Limitations

Sample size not reported, study design unclear, cross-sectional design cannot establish causation, no information on participant characteristics or confounding factors, unclear if findings are clinically meaningful or represent normal variation.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Original abstract

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;= 0.02) and pentacarboxyporphyrin (0.86 vs. 0.57;= 0.01), and reduced hexacarboxyporphyrin (0.12 vs. 0.23;= 0.03). Lead (Pb) levels were significantly higher in ASD (median: 1.96 µg/g creatinine vs. 0.82;= 0.004), while mercury (Hg) was not significantly different. Several trace element ratios differed significantly: Zn/Cu (ASD 41.9 vs. controls 49.1;= 0.021), Se/Pb (12.9 vs. 25.7;= 0.002), Cu/Se (0.49 vs. 0.38;= 0.008), and Zn/Pb (19.5 vs. 44.8;= 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.

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Evidence Grade

Emerging

limited

Grade assigned by AutismInsights based on study type and published abstract.

Study Details

Journal
International journal of molecular sciences
Year
2025
PMID
41226517
DOI
10.3390/ijms262110478

MeSH Terms

HumansAutism Spectrum DisorderTrace ElementsBiomarkersChildMaleFemalePorphyrinsChild, PreschoolCase-Control StudiesChromatography, High Pressure Liquid