Deficiency Syndrome
نویسندگان
چکیده
Coenzyme Q 10 (CoQ 10 ) 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 10 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 10 deficiency is important because the disease, in particular muscle symptoms and nephropathy, frequently responds to CoQ 10 supplementation. © 2014 S. Karger AG, Basel Human coenzyme Q 10 (CoQ 10 ) deficiency (MIM 607426) is a clinically and genetically heterogeneous syndrome, so far reported in about 100 patients and associated with 5 major clinical phenotypes: encephalomyopathy [Ogasahara et al., 1989; Sobreira et al., 1997; Boitier et al., 1998; Di Giovanni et al., 2001], severe infantile multiPublished online: March 19, 2014 Michio Hirano, MD Department of Neurology, H. Houston Merritt Clinical Research Center Columbia University Medical Center 630 West 168th Street, P&S 4-423, New York, NY 10032 (USA) E-Mail mh29 @ columbia.edu © 2014 S. Karger AG, Basel 1661–8769/14/0054–0141$39.50/0
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