Secondary deterioration of mitochondrial function has been reported in patients with anorexia and cancer-related malnutrition. Inadequate nutrition, failure to thrive and feeding problems are also common symptoms in children with primary oxidative phosphorylation defects. As a standard intervention protocol we advise an age-appropriate diet and energy intake in our patients diagnosed with a mitochondrial dysfunction. By comparing the results of the first and the second samples from a group of children who underwent repeated muscle biopsies, we observed biochemical improvement in the mitochondrial function in 7 out of 10 patients following dietary advice and intervention. We suggest evaluating the nutritional state by interpretation of the skeletal muscle biochemistry in patients with a suspected oxidative phosphorylation defect. Since an insufficient dietary intake could play a role in secondary mitochondrial dysfunction, nutritional intervention should be performed prior to the biopsy. On the other hand, our data suggest that optimizing the nutritional and energy intake might also improve the utilization of the residual mitochondrial energy-generating capacity in patients with primary oxidative phosphorylation defects.
Besides characteristic neurologic and musculoskeletal symptoms, children with mitochondrial dysfunction often present with feeding problems and failure to thrive. Substrate depletion for the respiratory chain has an effect on energy expenditure. Secondary mitochondrial dysfunction has been reported in severe chronic malnutrition. We evaluated the nutritional state, the growth parameters, and the metabolic condition in 172 children undergoing muscle biopsy for a suspected disorder of the oxidative phosphorylation system (OXPHOS). We performed dietary evaluation and initiated nutritional intervention when needed before the biopsy. Mitochondrial dysfunction was confirmed by detection of enzyme-complex deficiencies and/or by mutations in 83 children, in 14 patients no biochemical abnormalities were found. In the whole study group, and in the subgroup with enzyme-complex deficiency and/or mutation, a significant correlation was found between the mitochondrial production of adenosine triphosphate (ATP) and the age-related body mass index (BMI). Nutritional state and growth should be considered by interpreting the results of ATP-production in fresh muscle biopsy. Because of a positive correlation between the age-appropriate BMI and the ATP-production, we strongly advise optimizing the nutritional state preceding the muscle biopsy in children with a suspected OXPHOS-disorder. Dietary intervention remains although challenging because of frequent gastrointestinal problems and eating disorders. (Pediatr Res 65: 103-108, 2009) I s decreased mitochondrial energy production a consequence of severe respiratory chain dysfunction itself, or is it influenced by the actual nutritional state of the child with a severe chronic disease? This question appears frequently in the clinical practice, especially by the interpretation of the results of respiratory chain enzyme measurements in muscle. Secondary deterioration of mitochondrial function has been reported in patients with different chronic disorders, anorexia, and cancerrelated malnutrition (1-4). Therefore, one should consider that some children with severe malnutrition have only a secondary mitochondrial disease because of chronic substrate depletion (5,6). Chronic vitamin deficiency affects the mitochondrial function as well (7-9). Previously, we measured an increased mitochondrial production of adenosine triphosphate (ATP) in a few children with a second biopsy after the improvement of the nutritional condition (5). Secondary mitochondrial dysfunction was also found in several patients with variable inborn errors and insufficient nutrition (6,10). We assume that nutritional intervention with an individualized diet and optimal dietary intake in children with a mitochondrial disease improves the energy generating capacity, the clinical condition, and the quality of life in patients.We hypothesized a significant correlation between the growth and nutritional state and the energy production in children with both primary and secondary dysfunction of the oxidative phospho...
Patients with glycogen storage disease type IXa present with infantile hepatomegaly and a specific growth pattern, and variable biochemical alterations in blood. We studied the clinical and biochemical characteristics including the urinary oligosaccharide excretion of seven unrelated children. The urinary tetraglucoside excretion was increased in four children, three of whom had persistently high cholesterol and triglyceride concentrations. We propose screening for urine tetraglucoside excretion and the measurement of serum cholesterol in patients with growth delay and/or hepatomegaly to assess a possible glycogenosis.
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