The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
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)
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.