Porphyrinuria in childhood autistic disorder: implications for environmental toxicity

Robert Nataf, Corinne Skorupka, Lorene Amet, Alain Lam, Anthea Springbett, Richard Lathe

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)99-108
Number of pages10
JournalToxicology and Applied Pharmacology
Issue number2
Publication statusPublished - 15 Jul 2006


  • Administration, Oral
  • Adolescent
  • Autistic Disorder
  • Biomarkers
  • Chelating Agents
  • Child
  • Child Development Disorders, Pervasive
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • Coproporphyrins
  • Environmental Exposure
  • Female
  • Humans
  • Male
  • Metals, Heavy
  • Porphyrias
  • Porphyrins
  • Retrospective Studies
  • Succimer
  • Treatment Outcome
  • Uroporphyrins
  • Comparative Study
  • Journal Article


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