Diseases Studied
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 V deficiency
Complex V deficiency
Alternative Names: Adenosine Triphosphate Synthase Deficiency (ATP Synthase Deficiency)
Disease Category: Mitochondrial Disorders
An inherited, multisystemic, mitochondrial disorder characterized by protein complex V deficiency. Defects of this protein complex (structure made up of multiple proteins) disrupts the last step of oxidative phosphorylation, the process by which mitochondria (specialized cell structures) produce most of the body's energy. Signs include Leigh syndrome, feeding difficulty, extreme fatigue, hypotonia (low muscle tone), developmental delay, lactic acidosis (high blood lactate levels), encephalopathy (brain disease), hypertrophic cardiomyopathy (heart muscle thickening), heart failure, ataxia (lack of coordination), weakness, vision loss, and nerve damage.
Research groups studying this disease
Mitochondrial Disorders
North American Mitochondrial Disease Consortium (NAMDC)
MitoAction
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.