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Published on: June 21, 2015
Porphyrinuria in childhood autistic disorder: implications for environmental toxicity
Robert Nataf1, Corinne Skorupka, Lorene Amet
1Laboratoire Philippe Auguste, Paris, France.
Insights
Environmental toxicity may contribute to autism. Elevated urinary porphyrin levels, a biomarker of toxicity, were found in children with autistic disorder, but not Asperger's disorder. Treatment with DMSA reduced these levels.
Area of Science:
- Environmental Health
- Neurodevelopmental Disorders
- Biomarkers of Toxicity
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with potential environmental influences.
- Urinary porphyrins serve as biomarkers for environmental toxicity and heavy metal exposure.
- Previous research suggests a link between environmental factors and neurodevelopmental outcomes.
Purpose of the Study:
- To investigate the association between urinary porphyrin levels and autistic disorder.
- To differentiate autistic disorder from Asperger's disorder based on porphyrin profiles.
- To explore the potential impact of heavy metal toxicity on autistic disorder.
Main Methods:
- Retrospective study of 269 children with neurodevelopmental disorders.
- Analysis of urinary porphyrin levels using high-performance liquid chromatography.
- Comparison of porphyrin levels between autistic disorder, Asperger's disorder, and control groups.
- Subgroup treatment with dimercaptosuccinic acid (DMSA) to assess heavy metal removal efficacy.
Main Results:
- Significantly elevated coproporphyrin levels in children with autistic disorder compared to controls (P < 0.001).
- Elevated precoproporphyrin, an indicator of heavy metal toxicity, was also observed in autistic disorder (P < 0.001).
- Porphyrin levels were not elevated in Asperger's disorder, distinguishing it from autistic disorder.
- A significant reduction in urinary porphyrin excretion was noted after DMSA treatment in a subgroup of children with autistic disorder (P = 0.002).
Conclusions:
- Urinary porphyrin elevation, particularly precoproporphyrin, implicates environmental toxicity in childhood autistic disorder.
- The findings suggest a potential role for heavy metal exposure in the pathophysiology of autistic disorder.
- Differentiating autistic disorder from Asperger's disorder based on porphyrin profiles may offer diagnostic insights.
Abstract:
To address a possible environmental contribution to autism, we carried out a retrospective study on urinary porphyrin levels, a biomarker of environmental toxicity, in 269 children with neurodevelopmental and related disorders referred to a Paris clinic (2002-2004), including 106 with autistic disorder. Urinary porphyrin levels determined by high-performance liquid chromatography were compared between diagnostic groups including internal and external control groups. Coproporphyrin levels were elevated in children with autistic disorder relative to control groups. Elevation was maintained on normalization for age or to a control heme pathway metabolite (uroporphyrin) in the same samples. The elevation was significant (P < 0.001). Porphyrin levels were unchanged in Asperger's disorder, distinguishing it from autistic disorder. The atypical molecule precoproporphyrin, a specific indicator of heavy metal toxicity, was also elevated in autistic disorder (P < 0.001) but not significantly in Asperger's. A subgroup with autistic disorder was treated with oral dimercaptosuccinic acid (DMSA) with a view to heavy metal removal. Following DMSA there was a significant (P = 0.002) drop in urinary porphyrin excretion. These data implicate environmental toxicity in childhood autistic disorder.
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