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 > Complex III Deficiency
Complex III Deficiency
Alternative Names: Complex III Mitochondrial Respiratory Chain Deficiency; Isolated CoQ-Cytochrome C Reductase Deficiency; Ubiquinone-Cytochrome C Oxidoreductase Deficiency
Disease Category: Mitochondrial Disorders
An inherited, multisystemic, mitochondrial disorder characterized by protein complex III deficiency. Defects of this protein complex (structure made up of multiple proteins) disrupts the third step of oxidative phosphorylation, the process by which mitochondria (specialized cell structures) produce most of the body's energy. Signs include encephalopathy (brain disease), hypoglycemia (low blood glucose levels), hypotonia (low muscle tone), weakness, seizures, lactic acidosis (high blood lactate levels), exercise intolerance, hearing and vision loss, seizures, cardiomyopathy (heart disease), and liver and kidney disease.
Research groups studying this disease
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.