Huang Lijuan, Li Hua, Zhong Jianmin, Yang Liming, Chen Guohong, Wang Dong, Zheng Guo, Han Hong, Han Xiong, Long Yiqin, Wang Xu, Liang Jianmin, Yu Mei, Shen Xiaoyun, Fan Mengke, Fang Fang, Liao Jianxiang, Sun Dan
Department of Neurology, Tongji Medical College, Wuhan Children's Hospital, Huazhong University of Science and Technology, Wuhan, China.
Department of Epilepsy Center, Guangdong 999 Brain Hospital, Guangzhou, China.
Front Neurol. 2022 Aug 1;13:880944. doi: 10.3389/fneur.2022.880944. eCollection 2022.
The ketogenic diet (KD) is increasingly used to treat drug-resistant epilepsy because of its favorable effect on seizure reduction. Patients with mitochondrial diseases tend to experience seizures. Therefore, this study aimed to test the efficacy of the KD on participants with mitochondrial diseases in a controlled trial.
Participants from fourteen clinical centers who were diagnosed with mitochondrial disease were semi-randomized to either the intervention (KD) or control group. The KD group followed a 3-month KD intervention, while the control group received a 1-month normal diet initially and then a 3-month KD intervention. The primary outcome measure was seizure reduction. Biomarker changes, cognitive impairments, and side effects were also recorded, if available.
A total of 33 participants were assigned to the KD ( = 22) and control groups ( = 11). In the KD group, 31.8% (7/22) of participants achieved ≥50% seizure reduction after 1 month of diet intervention, which increased to 40.9% (9/22) at 3 months. In the control group, only 18.2% (2/11) of the participants had ≥50% seizure reduction during the normal diet period. After the control group was transferred to the KD, 63.6% (7/11) of participants had >50% seizure reduction, and this rate increased to 72.7% (8/11) at 3 months. The KD also showed high efficacy in participants with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) or pathogenic variants in mitochondrial DNA (mtDNA) (90% and 93.3% response rates, respectively). The most frequent side effects reported at the 3-month review were vomiting, cold, hyperlipidemia, and bloating.
The KD is a safe and effective therapy for seizure control in mitochondrial diseases, especially MELAS and pathogenic variants of mtDNA. KD intervention can be considered in the management of these patients.
生酮饮食（KD）因其在减少癫痫发作方面的良好效果，越来越多地用于治疗耐药性癫痫。线粒体疾病患者容易出现癫痫发作。因此，本研究旨在通过一项对照试验，测试KD对线粒体疾病参与者的疗效。
来自14个临床中心的被诊断为线粒体疾病的参与者被半随机分配到干预组（KD）或对照组。KD组进行为期3个月的KD干预，而对照组最初接受1个月的正常饮食，然后进行3个月的KD干预。主要结局指标是癫痫发作减少情况。如有可能，还记录生物标志物变化、认知障碍和副作用。
共有33名参与者被分配到KD组（n = 22）和对照组（n = 11）。在KD组中，31.8%（7/22）的参与者在饮食干预1个月后癫痫发作减少≥50%，在3个月时增至40.9%（9/22）。在对照组中，只有18.2%（2/11）的参与者在正常饮食期间癫痫发作减少≥50%。对照组转为KD后，63.6%（7/11）的参与者癫痫发作减少>50%，在3个月时这一比例增至72.7%（8/11）。KD在线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）或线粒体DNA（mtDNA）致病性变异的参与者中也显示出高效（缓解率分别为90%和93.3%）。在3个月复查时报告的最常见副作用是呕吐、感冒、高脂血症和腹胀。
KD是控制线粒体疾病，尤其是MELAS和mtDNA致病性变异患者癫痫发作的一种安全有效的疗法。在这些患者的管理中可考虑进行KD干预。
