CoQ10 deficiency diseases in adults.
Deficiency of Coenzyme Q10 (CoQ10) in muscle has been associated with a spectrum of diseases including infantile-onset multi-systemic diseases, encephalomyopathies with recurrent myobinuria, cerebellar ataxia, and pure myopathy. CoQ10 deficiency predominantly affects children, but patients have presented with adult-onset cerebellar ataxia or myopathy. Mutations in the CoQ10 biosynthetic genes, COQ2 and PDSS2, have been identified in children with the infantile form of CoQ10 deficiency; however, the molecular genetic bases of adult-onset CoQ10 deficiency remains undefined.
Quinzii
Catarina M
CM
Department of Neurology, Columbia University Medical Center, P&S 4-420, 630 West 168th street, New York, NY 10032, USA.
Hirano
Michio
M
DiMauro
Salvatore
S
D000328:Adult; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000378:metabolism; D004579:Electron Transport; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000378:metabolism; D008954:Models, Biological; D008956:Models, Chemical; D018482:Muscle, Skeletal / Q000378:metabolism; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000378:metabolism; D014451:Ubiquinone / Q000032:analysis* / Q000172:deficiency*
D014451:Ubiquinone