CoQ10 deficiency diseases in adults

Deficiency of Coenzyme Q(10) (CoQ(10)) 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. CoQ(10) deficiency predominantly affects children, but patients have presented with adult-onset cerebellar ataxia or myopathy. Mutations in the CoQ(10) biosynthetic genes, COQ2 and PDSS2, have been identified in children with the infantile form of CoQ(10) deficiency; however, the molecular genetic bases of adult-onset CoQ(10) deficiency remains undefined. (c) 2007 Elsevier B.V. and Mitochondria Research Society. All rights reserved.