Metabolic Brain Disease

, Volume 34, Issue 1, pp 283–288 | Cite as

Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis

  • Mehmet Serif Cansever
  • Tanyel ZubariogluEmail author
  • Cigdem Oruc
  • Ertugrul Kiykim
  • Alper Gezdirici
  • Salim Neselioglu
  • Ozcan Erel
  • Cengiz Yalcinkaya
  • Cigdem Aktuglu-Zeybek
Original Article


L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive disorder that is caused by deficiency of 2-hydroxyglutarate dehydrogenase. Pathophysiology of brain damage is poorly understood. In recent years, it was proposed that oxidative stress was elevated and led to brain injury. Aim of this study is to evaluate thiol/disulphide homeostasis as an indicator of oxidative stress in L2HGA patients who have been receiving antioxidant treatment. Sixteen L2HGA patients and 16 healthy individuals were included in the study. All the L2HGA patients were regularly followed up and presented neurological dysfunction at different grades. Fourteen patients had been receiving antioxidant treatment. Serum native thiol (-SH), total thiol (-SH + -S-S-) and disulphide (-S-S) levels were measured. Disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios were calculated from these values. No significant difference was observed in -SH, -SH + -S-S-, -S-S levels between two groups. In addition to that, no increase of disulphide/native thiol and disulphide/total thiol ratios was detected. Thiol/disulphide homeostasis parameters were also compared between patients who had been receiving and not receiving antioxidant therapy; and between different types of antioxidant therapy and the results did not point to any significant difference. This is the first study that evaluates dynamic thiol/disulphide homeostasis as an indicator of oxidative stress in L2HGA and it has one of the largest sample sizes among previous studies. In our study we suggest that antioxidant therapy should be effective in preventing oxidative stress in L2HGA patients, which has been reported in previous studies and should be a part of standard therapy.


L2HGA Thiol/disulphide homeostasis Oxidative stress Neurotoxicity 


Compliance with ethical standards

Conflict of interest

Mehmet Serif CANSEVER,Tanyel ZUBARIOGLU, Cigdem ORUC, Ertugrul KIYKIM, Alper GEZDIRICI, Salim NESELIOGLU, Ozcan EREL, Cengiz YALCINKAYA and Cigdem AKTUGLU-ZEYBEK declare that they have no conflict of interest.

The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.

All procedures followed were in accordance with the ethical standards of the local Ethical Committee of Cerrahpasa Medical faculty and with the Helsinki Declaration of 1975, as revised in 2000.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Mehmet Serif Cansever
    • 1
  • Tanyel Zubarioglu
    • 2
    Email author
  • Cigdem Oruc
    • 3
  • Ertugrul Kiykim
    • 2
  • Alper Gezdirici
    • 4
  • Salim Neselioglu
    • 5
  • Ozcan Erel
    • 5
  • Cengiz Yalcinkaya
    • 6
  • Cigdem Aktuglu-Zeybek
    • 2
  1. 1.Cerrahpasa Medical Faculty Central LaboratoryIstanbul UniversityIstanbulTurkey
  2. 2.Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and MetabolismIstanbul UniversityIstanbulTurkey
  3. 3.Cerrahpasa Medical Faculty, Department of PediatricsIstanbul UniversityIstanbulTurkey
  4. 4.Kanuni Sultan Suleyman Education and Research Hospital, Department of GeneticsHealth Sciences UniversityIstanbulTurkey
  5. 5.Faculty of Medicine, Department of Clinical BiochemistryYildirim Beyazit UniversityAnkaraTurkey
  6. 6.Cerrahpasa Medical Faculty, Department of Neurology, Division of Pediatric NeurologyIstanbul UniversityIstanbulTurkey

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