Isolated complex III deficiency
Synonyms: Isolated CoQ-cytochrome C reductase deficiency | Isolated coenzyme Q-cytochrome C reductase deficiency | Isolated mitochondrial respiratory chain complex III deficiency | Isolated ubiquinone-cytochrome C reductase deficiency
Isolated complex III deficiency is a rare genetic mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia failure to thrive psychomotor delay cardiomyopathy encephalopathy renal tubulopathy hearing impairment lactic acidosis hypoglycemia and other signs and symptoms).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Isolated complex III deficiency?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Clinical Trials
For a list of clinical trials in this disease area, please click here.