Paleologou Eleni, Ismayilova Naila, Kinali Maria
Chelsea and Westmister Hospital, 369 Fulham road, Chelsea, London SW10 9NH, UK.
J Clin Med. 2017 May 26;6(6):56. doi: 10.3390/jcm6060056.
Mitochondrial disorders are a clinically heterogeneous group of disorders that are caused by defects in the respiratory chain, the metabolic pathway of the adenosine tri-phosphate (ATP) production system. Epilepsy is a common and important feature of these disorders and its management can be challenging. Epileptic seizures in the context of mitochondrial disease are usually treated with conventional anti-epileptic medication, apart from valproic acid. However, in accordance with the treatment of intractable epilepsy where there are limited treatment options, the ketogenic diet (KD) has been considered as an alternative therapy. The use of the KD and its more palatable formulations has shown promising results. It is especially indicated and effective in the treatment of mitochondrial disorders due to complex deficiency. Further research into the mechanism of action and the neuroprotective properties of the KD will allow more targeted therapeutic strategies and thus optimize the treatment of both epilepsy in the context of mitochondrial disorders but also in other neurodegenerative disorders.
线粒体疾病是一组临床异质性疾病，由呼吸链（三磷酸腺苷（ATP）产生系统的代谢途径）缺陷引起。癫痫是这些疾病的常见且重要特征，其治疗具有挑战性。除丙戊酸外，线粒体疾病背景下的癫痫发作通常用传统抗癫痫药物治疗。然而，鉴于难治性癫痫治疗选择有限，生酮饮食（KD）已被视为一种替代疗法。KD及其更可口配方的使用已显示出有前景的结果。它在治疗因复合物缺乏引起的线粒体疾病方面特别适用且有效。对KD作用机制和神经保护特性的进一步研究将使治疗策略更具针对性，从而优化线粒体疾病背景下癫痫以及其他神经退行性疾病的治疗。
