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Updated: May 28, 2026

Quantification of Coenzyme A in Cells and Tissues
Published on: September 27, 2019
Primary and secondary CoQ(10) deficiencies in humans
Catarina M Quinzii1, Michio Hirano
1Department of Neurology, Columbia University Medical Center, New York, USA.
None:
CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10) deficiencies) or in genes not directly related to CoQ(10) biosynthesis (secondary CoQ(10) deficiencies). Respiratory chain defects, ROS production, and apoptosis variably contribute to the pathogenesis of primary CoQ(10) deficiencies.
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