Synonyms: Syndromic sensorineural deafness due to COXPD | Syndromic sensorineural hearing loss due to COXPD
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness intermittent or persistent hypoglycemia and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased deficiency of mitochondrial respiratory chain complexes I III and IV is observed in the liver and in fibroblasts.
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 September 2024
Newly diagnosed with
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect?
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Advocacy Organizations
MitoCanada
MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.
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.