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

ObjectivesTo study CoQ10 concentrations in muscle and fibroblast from 6 patients with a CoQ10 deficiency syndrome.Design and methodsCoQ10 was quantified by HPLC with electrochemical detection.ResultsFour out of the 6 cases showed muscle CoQ10 deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ10 values in fibroblasts when compared with controls.ConclusionsBiochemical study of CoQ10 in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients.