Ketogenic diet in adult patients with mitochondrial myopathy

IF 3.7 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM

Molecular genetics and metabolism Pub Date : 2024-11-10 DOI:10.1016/j.ymgme.2024.108610

Heidi E.E. Zweers , Sophie H. Kroesen , Gijsje Beerlink , Elke Buit , Karlijn Gerrits , Astrid Dorhout , Annemiek M.J. van Wegberg , Mirian C.H. Janssen , Saskia B. Wortmann , Silvie Timmers , Christiaan G.J. Saris

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Abstract

Background

This study aimed to explore the feasibility, safety and efficacy of a Modified Atkins Diet (MAD) in patients with mitochondrial myopathy (MM).

Methods

Patients with genetically proven mitochondrial disorder and exercise intolerance or muscle weakness followed a twelve week MAD. Feasibility was measured by diet duration and ketone levels. Safety was assessed by monitoring adverse events (AE). Efficacy was assessed by a maximal incremental test and a muscle performance test.

Results

Eight out of twenty patients completed the twelve week intervention. Reasons to discontinue were the occurrence of AE: rhabdomyolysis (n = 3), vomiting (n = 1), fatigue (n = 6), constipation (n = 1), in combination with a lack of improvement and adherence difficulties. On an individual level, various positive effects were reported including improvements in VO_2peak (n = 6), anaerobic threshold (n = 9), muscle fatigue resistance (n = 5), muscle strength (n = 7), fatigue (n = 6), glucose tolerance (n = 7), migraine (n = 3), sleep (n = 3), and gastrointestinal complaints (n = 2). Lipid profile improved and thirteen patients lost weight. All patients with mitochondrial DNA (mtDNA) deletions, experienced muscle related AE. The five patients with the m.3243A>G mutation achieved the longest diet duration.

Discussion/conclusion

MAD feasibility, safety and efficacy is variable in MD patients. MAD appears to be unsuitable for MD patients with mtDNA deletions. All patients should be monitored closely for adverse events when initiating the diet. Further research should focus on predictive factors to consider the diet, effectiveness of less stringent carbohydrate restricted diets.

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线粒体肌病成年患者的生酮饮食

背景本研究旨在探讨线粒体肌病（MM）患者采用改良阿特金斯饮食法（MAD）的可行性、安全性和有效性。方法经基因证实患有线粒体紊乱、运动不耐受或肌无力的患者采用为期 12 周的改良阿特金斯饮食法。可行性通过饮食持续时间和酮体水平来衡量。安全性通过监测不良事件（AE）进行评估。疗效通过最大增量测试和肌肉表现测试进行评估。终止治疗的原因是出现了不良反应：横纹肌溶解（3 例）、呕吐（1 例）、疲劳（6 例）、便秘（1 例），以及缺乏改善和难以坚持。在个体层面上，报告了各种积极效果，包括提高 VO2 峰值（6 人）、无氧阈值（9 人）、肌肉抗疲劳能力（5 人）、肌肉力量（7 人）、疲劳（6 人）、葡萄糖耐量（7 人）、偏头痛（3 人）、睡眠（3 人）和胃肠道不适（2 人）。血脂状况有所改善，13 名患者体重减轻。所有线粒体 DNA（mtDNA）缺失的患者都出现了与肌肉相关的 AE。讨论/结论MAD 在 MD 患者中的可行性、安全性和有效性各不相同。MAD似乎不适合mtDNA缺失的MD患者。所有患者在开始饮食时都应密切监测不良反应。进一步的研究应侧重于考虑饮食的预测因素、较宽松的碳水化合物限制饮食的有效性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular genetics and metabolism 生物-生化与分子生物学

CiteScore

5.90

自引率

7.90%

发文量

621

审稿时长

34 days

期刊介绍： Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.