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.
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All Diseases > CoQ Deficiency
Alternative Names: Primary Coenzyme Q10 Deficiency; Ubiquinone Deficiency; Coenzyme Q Deficiency (Primary CoQ10 Deficiency)
Disease Category: Mitochondrial Disorders
A rare, inherited disorder characterized by deficiency of a protein called coenzyme Q10, or ubiquinone. Age of onset varies. Manifestations include: encephalomyopathy (severe brain disease combined with muscle weakness), ataxia (lack of coordination), seizures, spasticity (muscle rigidity), nystagmus (abnormal eye movements), vision loss, intellectual disability, hypotonia (low muscle tone), dystonia (involuntary movements), hypertrophic cardiomyopathy (heart muscle thickening), and nephrotic syndrome (kidney damage causing protein excretion in the urine).
Research groups studying this disease
North American Mitochondrial Disease Consortium (NAMDC)View Disease Definition
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.