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.

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