Response to Energy Requirements in m.3243A>G Carriers Depend on Multiple Factors

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Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA

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

Patients With Mitochondrial Disease Have an Inadequate Nutritional Intake

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Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety

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

Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation

Contains fulltext : 218688.pdf (publisher's version ) (Closed access)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

Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A>G mutation

BACKGROUND: Previous research has shown that dysphagia and gastrointestinal problems occur frequently in carriers of the m.3243A>G mutation; however, the exact frequency and severity have not been determined. We hypothesise that adult carriers have an increased risk for malnutrition. METHODS: In this observational study we evaluated the presence of gastrointestinal problems and dysphagia in 92 carriers of the m.3243A>G mutation. The severity of the general disease involvement was classified using the Newcastle Mitochondrial Disease Adult Scale (NMDAS). Gastrointestinal involvement, dysphagia and the risk for malnutrition were scored using the Gastrointestinal Symptoms Questionnaire and the Malnutrition Universal Screening Tool. Gastrointestinal symptoms and anthropometrics were compared with healthy controls. RESULTS: Our results show that the height, weight and body mass index (BMI) of these carriers were lower than the national average (p G carriers cohort and are not related to heteroplasmy levels in UEC or disease severity. The severity of gastrointestinal problems as well as overall disease severity is associated with an increased risk for malnutrition

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

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Dietary practices in propionic acidemia: A European survey

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Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.

The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals with McArdle disease (glycogen storage disease type V), and despite the absence of strong scientific evidence of the LCKD's benefits, increased numbers of individuals with McArdle disease have tried a LCKD. The objective of this study was to collect patient-reported experiences with a LCKD. We aimed to estimate the immediate prevalence of individuals that had tried a LCKD in an international McArdle disease cohort, and we aimed to report on the patient-reported experiences with the diet, both positive and negative. A total of 183 responses were collected from individuals with McArdle disease from 18 countries. We found that one-third of the cohort had tried a LCKD, and almost 90% experienced some degree of positive effect, with the most prominent effects on McArdle disease-related core symptoms (e.g., activity intolerance, muscle pain, and muscle fatigue). Adverse effects were rare and generally rated as mild to moderate. These patient-reported findings underline the need for randomized clinical trials to decisively determine if a LCKD is a suitable nutritional strategy for patients with McArdle disease. The results from this study can prompt and contribute to the design of such a clinical trial

How strict is galactose restriction in adults with galactosaemia? International practice

Dietary management of 418 adult patients with galactosaemia (from 39 centres/12 countries) was compared. All centres advised lactose restriction, 6 restricted galactose from galactosides +/- fruits and vegetables and 12 offal. 38% (n=15) relaxed diet by: 1) allowing traces of lactose in manufactured foods (n=13) or 2) giving fruits, vegetables and galactosides (n=2). Only 15% (n=6) calculated dietary galactose. 32% of patients were lost to dietetic follow-up. In adult galactosaemia, there is limited diet relaxation