Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

Abstract

Coenzyme Q(10) (CoQ(10)) deficiency has been associated with 5 major clinical phenotypes: encephalomyopathy, severe infantile multisystemic disease, nephropathy, cerebellar ataxia, and isolated myopathy. Primary CoQ(10) deficiency is due to defects in CoQ(10) biosynthesis, while secondary forms are due to other causes. A review of 149 cases, including our cohort of 76 patients, confirms that CoQ(10) deficiency is a clinically and genetically heterogeneous syndrome that mainly begins in childhood and predominantly manifests as cerebellar ataxia. Coenzyme Q(10) measurement in muscle is the gold standard for diagnosis. Identification of CoQ(10) deficiency is important because the condition frequently responds to treatment. Causative mutations have been identified in a small proportion of patients.

• Authors: Valentina Emmanuele, Luis C López, Luis López, Andres Berardo, Ali Naini, Saba Tadesse, Bing Wen, Erin D'Agostino, Martha Solomon, Salvatore DiMauro, Catarina Quinzii, Michio Hirano
• Journal: Archives of neurology (Arch Neurol) Vol. 69 Issue 8 Pg. 978-83 (Aug 2012) ISSN: 1538-3687 [Electronic] United States
• PMID: 22490322 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Ubiquinone
• coenzyme Q10

Topics

• Animals
• Cerebellar Ataxia (genetics, therapy)
• Cohort Studies
• Genetic Heterogeneity
• Humans
• Ubiquinone (analogs & derivatives, biosynthesis, deficiency, therapeutic use)