Treatment of mitochondrial disorders

Sreenivas Avula, Sumit Parikh, Scott Demarest, Jonathan Kurz, Andrea Gropman

Research output: Contribution to journalReview articlepeer-review

62 Scopus citations


While numerous treatments for mitochondrial disorders have been suggested, relatively few have undergone controlled clinical trials. Treatment of these disorders is challenging, as only symptomatic therapy is available. In this review we will focus on newer drugs and treatment trials in mitochondrial diseases, with a special focus on medications to avoid in treating epilepsy and ICU patient with mitochondrial disease, which has not been included in such a review. Readers are also referred to the opinion statement in A Modern Approach to the Treatment of Mitochondrial Disease published in Current Treatment Options in Neurology 2009. Many of the supplements used for treatment were reviewed in the previous abstract, and dosing guidelines were provided. The focus of this review is on items not previously covered in depth, and our discussion includes more recently studied compounds as well as any relevant updates on older compounds. We review a variety of vitamins and xenobiotics, including dichloroacetate (DCA), arginine, coenzyme Q10, idebenone, EPI-743, and exercise training. Treatment of epilepsy, which is a common feature in many mitochondrial phenotypes, warrants special consideration due to the added toxicity of certain medications, and we provide a discussion of these unique treatment challenges. Interesting, however, with only a few exceptions, the treatment strategies for epilepsy in mitochondrial cytopathies are the same as for epilepsy without mitochondrial dysfunction. We also discuss intensive care management, building upon similar reviews, adding new dimensions, and demonstrating the complexity of overall care of these patients.

Original languageEnglish (US)
Article number292
JournalCurrent Treatment Options in Neurology
Issue number6
StatePublished - Jun 2014


  • Arginine
  • Bezafibrate
  • Carnitine
  • Coenzyme Q10
  • Creatine
  • Cysteine
  • Dichloroacetate (DCA)
  • Dimethylglycine (DMG)
  • EPI-743
  • Energy metabolism
  • Gene therapy
  • Idebenone
  • Lipoic acid
  • Mitochondria
  • Mitochondrial disorders
  • N-acetyl cysteine (NAC)
  • POLG1
  • Resveratrol
  • Riboflavin
  • Thiamine
  • Treatment

ASJC Scopus subject areas

  • Clinical Neurology


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