Isolated complex III deficiency

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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 Data version July 2024

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Isolated complex III deficiency?

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Advocacy Organizations

The Mito Foundation

Mito Foundation is Australia’s peak body dedicated to supporting and empowering people affected by mitochondrial disease (mito). Our mission is to be the catalyst of energy, hope and cures for every Australian impacted by mito. Mito is a debilitating genetic disorder that robs the body’s cells of energy, causing single or multiple organ dysfunction or failure, and in many instances death.

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.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.