Metabolic Brain Disease

, Volume 31, Issue 6, pp 1419–1426 | Cite as

Altered urinary porphyrins and mercury exposure as biomarkers for autism severity in Egyptian children with autism spectrum disorder

  • Eman M. Khaled
  • Nagwa A. Meguid
  • Geir BjørklundEmail author
  • Amr Gouda
  • Mohamed H. Bahary
  • Adel Hashish
  • Nermin M. Sallam
  • Salvatore Chirumbolo
  • Mona A. El-Bana
Original Article


Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social, communication, and behavioral development. Recent evidence supported but also questioned the hypothetical role of compounds containing mercury (Hg) as contributors to the development of ASD. Specific alterations in the urinary excretion of porphyrin-containing ring catabolites have been associated with exposure to Hg in ASD patients. In the present study, the level of urinary porphyrins, as biomarkers of Hg toxicity in children with ASD, was evaluated, and its correlation with severity of the autistic behavior further explored. A total of 100 children was enrolled in the present study. They were classified into three groups: children with ASD (40), healthy controls (40), and healthy siblings of the ASD children (20). Children with ASD were diagnosed using DSM-IV-TR, ADI-R, and CARS tests. Urinary porphyrins were evaluated within the three groups using high-performance liquid chromatography (HPLC), after plasma evaluation of mercury (Hg) and lead (Pb) in the same groups. Results showed that children with ASD had significantly higher levels of Hg, Pb, and the porphyrins pentacarboxyporphyrin, coproporphyrin, precoproporphyrin, uroporphyrins, and hexacarboxyporphyrin compared to healthy controls and healthy siblings of the ASD children. However, there was no significant statistical difference in the level of heptacarboxyporphyrin among the three groups, while a significant positive correlation between the levels of coproporphyrin and precoproporphyrin and autism severity was observed. Mothers of ASD children showed a higher percentage of dental amalgam restorations compared to the mothers of healthy controls suggesting that high Hg levels in children with ASD may relate to the increased exposure to Hg from maternal dental amalgam during pregnancy and lactation. The results showed that the ASD children in the present study had increased blood Hg and Pb levels compared with healthy control children indicating that disordered porphyrin metabolism might interfere with the pathology associated with the autistic neurologic phenotype. The present study indicates that coproporphyrin and precoproporhyrin may be utilized as possible biomarkers for heavy metal exposure and autism severity in children with ASD.


Autism Mercury exposure Urinary porphyrins Toxicity biomarkers 


Compliance with ethical standards

Conflict of interest

The authors declare no potential conflicts of interest with respect to the authorship, and/or publication of this article.

Ethical approval

All procedures performed were in accordance with the ethical standards of the institutional and/or national research committee, and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Eman M. Khaled
    • 1
  • Nagwa A. Meguid
    • 2
  • Geir Bjørklund
    • 3
    Email author
  • Amr Gouda
    • 4
  • Mohamed H. Bahary
    • 5
  • Adel Hashish
    • 2
  • Nermin M. Sallam
    • 2
  • Salvatore Chirumbolo
    • 6
  • Mona A. El-Bana
    • 7
  1. 1.Department of PediatricAl-Azhar UniversityCairoEgypt
  2. 2.Department of Research on Children with Special Needs, National Research CentreGizaEgypt
  3. 3.Council for Nutritional and Environmental MedicineMo i RanaNorway
  4. 4.Department of Genetic Biochemistry, National Research CentreGizaEgypt
  5. 5.Department of PsychiatryAl-Azhar UniversityCairoEgypt
  6. 6.University Laboratory of Medical Research, Department of MedicineUniversity of VeronaVeronaItaly
  7. 7.Department of Medical Biochemistry, National Research CentreGizaEgypt

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