title: Evidence of oxidative stress in peroxisomal disorders.
abstract: BACKGROUND
  Peroxisomal disorders are subdivided into peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiency. Many peroxisomal diseases exhibit excessive oxidative stress, leading to neurological alterations and dysfunction. Peroxisomes use oxygen in oxidative reactions that generate hydrogen peroxide. This study aimed to investigate various oxidative stress parameters in patients suffering from peroxisomal disorders.
  
  
  METHODS
  A total of 20 patients with peroxisomal disorders, aged six months to 13 years (mean age 5.9 ± 3.2 years), were compared to 14 healthy controls. All individuals were subjected to full history-taking, including a three-generation pedigree analysis concerning parental consanguinity and similarly affected members in the family, with meticulous clinical examination to detect any malformation or anomaly. Estimation of very-long-chain fatty acids and phytanic acid was done to verify the diagnosis. Brain magnetic resonance imaging, electroencephalogram, visual evoked potential, auditory potential and plain radiography were conducted to assess the pathological condition of the patients. Oxidative stress parameters, including nitric oxide (NO), malondialdehyde (MDA) and superoxide dismutase (SOD), were estimated in both the patients and controls.
  
  
  RESULTS
  Significant increases in both MDA and NO were found in patients with PBDs. It was also demonstrated that SOD was significantly lower in patients with PDB than the controls.
  
  
  CONCLUSIONS
  This study sheds more light on the link between oxidative stress and peroxisomal disorders, as oxidative stress may be a hallmark of peroxisomal disorders. Consequently, one of the useful neuronal rescue strategies could be treatment with antioxidant agents in addition to other lines of treatments.
authors.affiliation: Division of Human Genetics and Genome Research, National Research Centre, El-Tahreer Street, Dokki, Cairo, Egypt. halabassyouni@yahoo.com
authors.forename: Hala Tabie
authors.initials: HT
authors.lastname: El-Bassyouni
authors.forename: Soheir A
authors.initials: SA
authors.lastname: Abdel Maksoud
authors.forename: Fadia A
authors.initials: FA
authors.lastname: Salem
authors.forename: Reem
authors.initials: R
authors.lastname: Badr El-Deen
authors.forename: Hisham
authors.initials: H
authors.lastname: Abdel Aziz
authors.forename: Manal Michel
authors.initials: MM
authors.lastname: Thomas
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004534:Egypt; D006801:Humans; D007223:Infant; D008315:Malondialdehyde / Q000097:blood; D016555:Matched-Pair Analysis; D009569:Nitric Oxide / Q000097:blood; D018384:Oxidative Stress / Q000235:genetics; D010375:Pedigree; D018901:Peroxisomal Disorders / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D013482:Superoxide Dismutase / Q000097:blood
chemical_list: D015415:Biomarkers; D009569:Nitric Oxide; D008315:Malondialdehyde; D013482:Superoxide Dismutase