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Background: No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge free radicals, putting ketogenic diets (KDs) on the list of management options for MD. Furthermore, KDs are well-known, safe and effective treatments for epilepsy, a frequent symptom of MD. This systematic review evaluates efficacy and safety of KD for MD., Methods: We searched Pubmed, Cochrane, Embase and Cinahl (November 2020) with search terms linked to MD and KD. From the identified records, we excluded studies on Pyruvate Dehydrogenase Complex deficiency. From these eligible reports, cases without a genetically confirmed diagnosis and cases without sufficient data on KD and clinical course were excluded. The remaining studies were included in the qualitative analysis., Results: Only 20 cases (14 pediatric) from the 694 papers identified met the inclusion criteria (one controlled trial (n = 5), 15 case reports). KD led to seizure control in 7 out of 8 cases and improved muscular symptoms in 3 of 10 individuals. In 4 of 20 cases KD reversed the clinical phenotype (e.g. cardiomyopathy, movement disorder). In 5 adults with mitochondrial DNA deletion(s) related myopathy rhabdomyolysis led to cessation of KD. Three individuals with POLG mutations died while being on KD, however, their survival was not different compared to individuals with POLG mutations without KD., Conclusion: Data on efficacy and safety of KD for MD is too scarce for general recommendations. KD should be considered in individuals with MD and therapy refractory epilepsy, while KD is contraindicated in mitochondrial DNA deletion(s) related myopathy. When considering KD for MD the high rate of adverse effects should be taken into account, but also spectacular improvements in individual cases. KD is a highly individual management option in this fragile patient group and requires an experienced team. To increase knowledge on this-individually-promising management option more (prospective) studies using adequate outcome measures are crucial.

Objective: The aim of this study was to evaluate the effect of an individually tailored dietary intervention on personalized goals, body composition (BC), functioning, and quality of life (QoL) in adult patients with mitochondrial disease (MD) due to the m.3243 A>G mutation., Methods: This explorative randomized controlled trial included 39 patients with MD. The intervention group (n = 20) received an individually tailored dietary intervention over a 6-mo period. The control group (n = 19) received standard care over a 6-mo timeframe (control period), followed by an individually tailored dietary intervention for the next 6 mo (intervention period). Nutritional assessment and QoL measurements were performed at 3-mo intervals. Personalized treatment goals of the patients with MD were evaluated at 3 and 6 mo during the dietary intervention. Achievement of the personalized goals was assessed using descriptive statistics and mixed models. Linear mixed models were used to test the effect of the dietary intervention on continuous outcomes., Results: The personal goals of patients were significantly more frequently achieved in the intervention group than in the control group. After 3 mo of intervention, 57% of the goals were achieved. Most goals were achieved for BC, handgrip strength (HGS), and gastrointestinal complaints. Intervention increased HGS (P = 0.037), the vitality component of QoL (P = 0.026), and decreased the fatigue score (P = 0.024) after 3 mo of treatment. Effects did not seem to last after 3 mo, however., Conclusion: An individually tailored dietary intervention is promising to achieve personalized goals of patients with MD, especially with regard to BC, HGS, and gastrointestinal complaints. The intervention also improves QoL, and decreases fatigue., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Mitochondrial disease (MD) is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Malnutrition in patients with MD may lead to increased mitochondrial dysfunction, which may enhance already existing symptoms. The aim of this study was to investigate whether patients with MD have an insufficient or unbalanced food intake and to establish which nutrients and product groups are particularly compromised in this patient group., Methods: In this observational, cross-sectional, retrospective study, sixty 3-day nutrition diaries of adult patients with MD were analyzed and compared with the Dutch recommended daily allowance and the Dutch National Food Consumption Survey (DNFCS)., Results: The intake of all macronutrients and micronutrients of patients with MD was significantly different from Dutch recommended daily allowance values with the exception of fat and iron. In particular, protein and calcium intake in patients with MD was significantly lower when compared with the DNFCS. Interindividual differences were high. Also, intake of fiber, sugars, saturated fat, and vitamin D differed from recommendations for the overall population. In comparison with DNFCS, the intake of dairy products and drinks was significant lower in patients., Conclusions: Our study demonstrates that many patients with MD have an inadequate diet. Specifically, intake of protein, calcium, dairy products, and fluids were low. Overall, eating a healthy diet seems as difficult for patients with MD as for the general population. Since interindividual differences are high, individual diet counseling is recommended for all adult patients with MD., (© 2017 American Society for Parenteral and Enteral Nutrition.)