Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

ObjectivesTo report on a case with a mitochondrial DNA (mtDNA) depletion syndrome.Design and methodsLaboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q10 (CoQ10) status and quantify mitochondrial DNA.ResultsDecreased CoQ10 values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance.ConclusionsmtDNA depletion syndrome was associated with CoQ10 deficiency in our patient.