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Deficiency of CoQ<jats:sub>10<\/jats:sub> is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal recessive in inheritance and generally responsive to CoQ<jats:sub>10<\/jats:sub> supplementation. CoQ<jats:sub>10<\/jats:sub> deficiency 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<jats:sub>10<\/jats:sub> (primary CoQ<jats:sub>10<\/jats:sub> deficiencies) or in genes not directly related to CoQ<jats:sub>10<\/jats:sub> biosynthesis (secondary CoQ<jats:sub>10<\/jats:sub> deficiencies). Respiratory chain defects, ROS production, and apoptosis contribute to the pathogenesis of primary CoQ<jats:sub>10<\/jats:sub> deficiencies. In vitro and in vivo studies are necessary to further understand the pathogenesis of the disease and to develop more effective therapies. \u00a9 2010 Wiley\u2010Liss, Inc. 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