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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., Competing Interests: Declaration of competing interest SW and HZ received a travel grants From Nutricia., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Aim: We aimed to identify the optimal method to estimate total energy expenditure (TEE) in mitochondrial disease (MD) patients., Methods: Resting energy expenditure (REE) was measured in MD patients carrying the m3243A>G mutation using indirect calorimetry (IC) and compared with results of 21 predictive equations (PEs) for REE and with REE-IC measurements in healthy controls. Physical activity level (PAL) was measured using accelerometery (SenseWear) and compared with a fixed average PAL (1.4) as well as patients' self-estimated activity levels. TEE was calculated as REE-IC × PAL SenseWear and compared with usual care and energy recommendations for healthy adults., Results: Thirty-eight MD patients (age: 48 ± 13 years; body mass index 24 ± 4 kg/m 2 ; male 20%) and 25 matched controls were included. The accuracy of most PEs was between 63% and 76%. The difference in REE-IC in healthy controls (1532 ± 182 kcal) and MD patients (1430 ± 221) was borderline not significant (P = .052). Patients' estimations PAL were 18%-34% accurate at the individual level. The fixed activity factor was 53% accurate. Patients overestimated their PAL. Usual care predicted TEE accurately in only 32% of patients., Conclusion: TEE is lower in these MD patients than the recommendations for healthy adults because of their lower physical activity. In MD patients, 6 PEs for REE provide a reliable alternative for IC, with an accuracy of 71%-76%. As PAL is highly variable and not reliably estimated by patients, measurement of PAL using accelerometery is recommended in this population., (© 2020 The Authors. Journal of Parenteral and Enteral Nutrition published by Wiley Periodicals, Inc. on behalf of American Society for Parenteral and Enteral Nutrition.)

Background: Whether decreased physical functioning of patients with mitochondrial disease (MD) is related to altered body composition or low protein intake needs clarification at the background of the nutrition state., Methods: In this 2-site cross-sectional study, MD patients were age-, body mass index (BMI)-, and gender-matched to controls. Body composition was assessed by dual-energy x-ray absorptiometry. Physical functioning was measured by handgrip strength, 6-minute walking test, 30-second sit-to-stand test (30SCT), and 6-minute mastication test. Total daily protein intake was calculated by 3-day food records. Malnutrition was assessed by Patient-Generated Subjective Global Assessment and the Global Leadership Initiative on Malnutrition (GLIM) criteria and sarcopenia by the 2018 consensus. Data were analyzed using independent samples t-tests, Fisher exact test, and Spearman and Pearson correlation coefficients., Results: Thirty-seven MD patients (42 ± 12 years, BMI: 23 ± 4 kg/m 2 , 59% females) and 37 matched controls were included. Handgrip strength was moderate, inversely related to fat mass index in both MD patients and controls, whereas it correlated with fat-free mass index in controls solely. Protein intake was associated with muscle strength (handgrip strength and 30SCT) in MD patients but not in controls. Twenty-seven MD patients (73%) were malnourished, and 5 (14%) were classified as sarcopenic., Conclusions: Muscle strength is related to body composition and protein intake in MD patients. This, in combination with the high incidence of both malnutrition and sarcopenia, warrants individual nutrition assessment in MD patients., (© 2020 The Authors. Journal of Parenteral and Enteral Nutrition published by Wiley Periodicals, Inc. on behalf of American Society for Parenteral and Enteral Nutrition.)