CoQ10 deficiency diseases in adults.

Department of Neurology, Columbia University Medical Center, P&S 4-420, 630 West 168th street, New York, NY 10032, USA.

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.

PMID: 17485248 [PubMed - indexed for MEDLINE]

PMCID: PMC2001314