a explorative study of nutritional state and the effect of diet intervention on body composition, muscle strength, activity, pulmonary function and quality of life in adults with mitochondrial disease caused by the m.3243A.G mutation.

The m.3243A> G mutation is the most frequent cause of mitochondrial disease in
adults. For a mitochondrial disease no therapy is available. The treatment is
supportive, aiming to improve quality of life. Clinical findings in patients
with mitochondrial diseases are both malnutrition and obesity. A nutritional
intervention could be a symptomatic treatment for these patients.

1. To obtain knowledge about the nutritional status of adult patients with
mitochondrial disease and the determinants that contribute to this.
2. Evaluate the effect of dietary intervention in adult patients with
mitochondrial disease on nutritional status, pulmonary function, muscle
strength, activity, fatigue and quality of life.
3. To create referral criteria for dietary intervention in patients with
mitochondrial diseases.

Part 1 consists of descriptive research using an extensive Nutritional
Assessment (NA) with indirect calorimetry (IC), bioimpedance analysis (BIA),
anthropometry, eating and activity report, activity measurement using the
actometer, completing questionnaires and pulmonary function tests.
Part 2 is a randomised controlled intervention study which 2 study groups. One
starts with diet intervention and the other starts with a control period of 6
months. After this period the second group also starts with the diet
intervention. This includes optimizing the diet based on individually
calculated energy and protein requirements and for the other nutrients the
recommended daily amounts (RDA) are followed. Nutritional Assessment
measurements will be repeated every 3 months. Indirect Calorimetry only one at
the beginning and pulmonary function every 6 months.

diet intervention individualy calculated for energy and protein other
nutrients according to the RDA

Low risk, risk of fasting are evaluated by physician and only when it is safe
for patients they can enter the study. The protein requirement is individually
calculated, which rules out additional risk for patients with any renal
impairment. Some burden: 3-5 clinic visits of approximately 2 hours in which
patients should be fasting for Nutritional Assessment, 4 x 3 days keeping food
and activity report and carry actometre, 3-5 x questionnaires, 2-3 x pulmonary
function tests (visits 1,3 and 5). The dietary intervention may also be
experienced as a burden.
It might be positive that the individual questions about nutrition can be
answered, patients get attention and are properly checked and that they can
benefit from the intervention.-