Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Objectives: To study CoQ(10) concentrations in muscle and fibroblast from 6 patients with a CoQ(10) deficiency syndrome. Design and methods: CoQ(10) was quantified by HPLC with electrochemical detection. Results: Four out of the 6 cases showed muscle CoQ(10) deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ(10) values in fibroblasts when compared with controls. Conclusions: Biochemical study of CoQ(10) in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients. (c) 2008 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.