Energy Requirements in Mitochondrial Disease
Metabolic diseases and mitochondrial disorders are caused by genetic mutation which lead to disruptions in energy producing pathways in our body. Enough energy or calories must be given in the diet to ensure normal growth and development. Currently, energy needs for patients with metabolic and mitochondrial diseases are not measured, but is estimated using a mathematical equation based on healthy children. This may lead to under feeding or overfeeding of calories, and has negative nutritional implications.
The clinical standard for measuring energy needs is the use of indirect calorimeter.The indirect calorimeter takes individualized measurements for each patient and therefore will enable dietitians and clinicians to provide sufficient calories in the diet to better manage the disease and promote normal growth and development.
We believe daily energy requirements will vary within metabolic diseases (Phenylketonuria) and mitochondrial disorders (mitochondrial fatty acid oxidation defect, POLG1 mutation etc.).
The objective of this preliminary study is to measure resting energy expenditure in children living with metabolic and mitochondrial conditions and data obtained will be used to generate future hypothesis and will form a basis for future studies.
Chronic Metabolic Disorder
|Study Design:||Observational Model: Case-Only
Time Perspective: Cross-Sectional
|Official Title:||Energy Requirements in Metabolic and Mitochondrial Disease|
- Resting Energy Expenditure [ Time Frame: 1 hour ] [ Designated as safety issue: No ]Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.
|Study Start Date:||February 2012|
|Estimated Study Completion Date:||June 2014|
|Estimated Primary Completion Date:||December 2013 (Final data collection date for primary outcome measure)|
|Metabolic Disease- Phenylketonuria|
|Canada, British Columbia|
|Child & Family Research Institute|
|Vancouver, British Columbia, Canada, V5Z4H4|
|Principal Investigator:||Rajavel Elango, PhD||Child & Family Research Institute/University of British Columbia|
|Study Chair:||Sylvia Stockler-Ipsiroglu||University of British Columbia/Faculty of Pediatrics|
|Study Chair:||Ramona Meni Salvarinova Zivkovic||University of Bristish Columbia/Faculty of Pediatrics|
|Study Chair:||Howard Parsons||University of British Columbia/Faculty of Pediatrics|