Mitochondrial Disorders Affecting the Nervous System

R.H. Haas, MB, BChir; Z. Zolkipli, MB, ChB


Semin Neurol. 2014;34(3):321-340. 

In This Article


Aside from symptom-based management, treatment of mitochondrial disease focuses on maintaining optimal health, using preventive measures to mitigate symptom worsening during times of physiologic stress (such as infection, dehydration, or surgery), and avoiding mitochondrial toxins.[194] There are recent reviews on the available supplements and the doses used in mitochondrial disease patients.[194,195] These include ubiquinol doses of 2 to 8 mg/kg/d in two divided doses. This form of CoQ10 is a solubilized, bioavailable form and is preferred over ubiquinone. Ubiquinone doses of 5 to 30 mg/kg/d in two divided doses is an available alternative. A recent randomized blinded crossover study using a low dose of 1200 mg of CoQ10 confirms minor benefit in exercise ability and lactate levels.[196] Oral levocarnitine (20–50 mg/kg/d in three divided doses), and a B-vitamin complex (B 100) with or without additional riboflavin (300 mg/d) are usually recommended, although the evidence of benefit is largely anecdotal. Creatine monohydrate supplementation has been reported to be beneficial in mitochondrial myopathies.[197] Exercise, both isometric and aerobic, has been shown to be beneficial in mitochondrial myopathies and should be advised for patients with mitochondrial myopathy.[71,198–200] Dichloroacetate is under study for treatment of PDH deficiency.[201,202]

EPI-743, a synthetic analog of vitamin E, targets repletion of reduced intracellular glutathione, and has been studied in open-label trials involving small numbers of patients with mitochondrial disease (n = 13), patients with genetically confirmed LS (n = 10), and LHON (n = 5), suggesting either improvement or slowing of disease progression.[203]