Abstract
Coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ<sub>10</sub> deficiency predominantly presents in childhood. To date, causative mutations have been identified in a small proportion of patients, making it difficult to identify a phenotype-genotype correlation. Identification of CoQ<sub>10</sub> deficiency is important because the disease, in particular muscle symptoms and nephropathy, frequently responds to CoQ<sub>10</sub> supplementation.
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