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All Diseases > Multiple Respiratory Chain Enzyme Deficiencies
Multiple Respiratory Chain Enzyme Deficiencies
Disease Category: Mitochondrial Disorders
In contrast to "isolated" or singularly occurring enzyme deficiencies, this is a term indicating a disruption of more than one step in the oxidative phosphorylation pathway (the process of energy production in the cells of the body). Multiple mutations, occurring particularly in mitochondria (specialized cell structures that conduct oxidative phosphorylation), cause deficiencies (shortages) or complete absence of certain enzymes (proteins that break down specific substances within the body). These enzymes are required for proper completion of each of the steps of the energy production pathway, also known as oxidative phosphorylation.
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.