CoQ10 deficiency diseases in adults.

Abstract

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.

• Authors: Catarina M Quinzii, Michio Hirano, Salvatore DiMauro
• Journal: Mitochondrion (Mitochondrion) Vol. 7 Suppl Pg. S122-6 (Jun 2007) ISSN: 1567-7249 [Print] Netherlands
• PMID: 17485248 (Publication Type: Journal Article, Review)

Chemical References

• Ubiquinone

Topics

• Adult
• Cerebellar Ataxia (diagnosis, metabolism)
• Electron Transport
• Female
• Humans
• Male
• Middle Aged
• Mitochondrial Encephalomyopathies (diagnosis, metabolism)
• Models, Biological
• Models, Chemical
• Muscle, Skeletal (metabolism)
• Muscles (metabolism, pathology)
• Muscular Diseases (diagnosis, metabolism)
• Ubiquinone (analysis, deficiency)