Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) 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