This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator.
Specific Aim #1 To perform IC in children with suspected mitochondrial disorders. To compare IC data (REE , VO2, VCO2, RQ) in patients with biopsy proven mitochondrial disorders with levels in patients who present for evaluation for suspected mitochondrial disorders but whose biopsies are not diagnostic as well as with published norms.
Specific Aim #2 To perform a comprehensive nutritional assessment in patients undergoing evaluation for mitochondrial disorders (dietary intake, anthropometric evaluation, biochemical measurements) and compare these values with published norms.Hypothesis for Aim 1:Children with mitochondrial disorders will have significantly lower levels of REE, when compared to age and sex matched population norms, and to children with suspected mitochondrial disorders that are biopsy negative. Hypothesis for Aim 2:Children with mitochondrial disorders will have a high incidence of malnutrition and will show evidence for vitamin/micronutrient deficiency when compared to population-based norms.Mitochondrial disorders are now considered to be the most prevalent amongst all metabolic diseases. The spectrum of symptoms can be very broad. Clinical features of patients referred for evaluation for are variable, ranging from isolated fatigability to severe neuromuscular and CNS problems. Making a diagnosis of mitochondrial disorders is a complicated process, often requiring an extensive evaluation and multiple tests. In many cases relatively invasive tests such as muscle biopsy are required. Indirect calorimetry (IC) is a noninvasive method used to evaluate resting energy expenditure (REE). It relies on accurate measurement of oxygen consumption (VO2) and carbon dioxide production (VCO2) for calculation of REE. About 60% to 70% of REE is comprised of energy required to maintain cell membrane pumps, the metabolic processes of the liver, kidney, and brain (1). Metabolic rate depends to some degree on the proton leak across the mitochondrial inner membrane
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