A recent study conducted by researchers at the Children’s Hospital of Philadelphia (CHOP) highlights the critical role of nutrition in patients with primary mitochondrial disease. Mitochondria, often referred to as the “batteries” of our cells, play a vital role in converting nutrients into energy for daily bodily functions. However, primary mitochondrial disease, encompassing over 300 genetic disorders, can impair mitochondrial function and subsequently affect energy levels.
The CHOP study reveals that individuals with primary mitochondrial disease not only face the challenges of impaired mitochondrial function but also tend to consume significantly inadequate nutrition. This underscores the urgent need for nutritional intervention to enhance the clinical outcomes of these patients.
Mitochondrial disease manifests through various symptoms, including muscle weakness, fatigue, exercise intolerance, and gastrointestinal issues. The latter can lead to difficulties in swallowing, slow gut motility, abdominal pain, and changes in bowel habits, affecting overall food intake.
In examining the nutritional status of 22 adults and 38 children with confirmed primary mitochondrial disease, the researchers found alarming inadequacies in energy consumption across the patient cohort. Approximately a quarter of the participants met the criteria for malnutrition.
To address the lack of dietary guidance for mitochondrial disease, the researchers introduced the Mitochondrial Disease Activity Factors (MOTIVATOR) system. This system considers the impact of muscle fatigue on physical activity, a common symptom in mitochondrial disease, providing a more accurate estimation of total energy expenditure.
Notably, the study identified a daily diet intake of around 1,143 calories in adults and 1,114 calories in children, significantly lower than the recommended 2,000 to 2,500 calorie diet for adults. A substantial portion of both adult and child participants consumed 75% or less of their predicted daily caloric needs, with malnutrition identified in a quarter of the patients.
The researchers observed positive correlations between increased protein and fat intake and improved muscle strength, decreased muscle fatigue, and an enhanced quality of life. These findings emphasize the need for systematic studies to identify effective nutritional interventions for mitochondrial disease patients.
In conclusion, the CHOP study underscores the critical importance of nutritional management in primary mitochondrial disease patients, advocating for further research and intervention to address this pressing issue within the mitochondrial disease community.