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Clin Biochem. 2008 Jun;41(9):697-700. doi: 10.1016/j.clinbiochem.2008.03.007. Epub 2008 Mar 20.

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

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  • 1Department of Clinical Biochemistry, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III. Barcelona, Spain.

Abstract

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.

PMID:
18387363
[PubMed - indexed for MEDLINE]
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