The purpose of this overview is to:
Briefly describe the clinical characteristics of primary coenzyme Q10 (CoQ10) deficiency.
Increase the awareness of clinicians regarding genetic causes of primary CoQ10 deficiency.
Review the differential diagnosis of primary CoQ10 deficiency with a focus on genetic conditions.
Provide an evaluation strategy to identify the genetic cause of primary CoQ10 deficiency in a proband.
Review management of primary CoQ10 deficiency, including targeted pharmacologic treatment with high-dose oral CoQ10 supplementation and supportive treatment.
Inform genetic counseling of family members of an individual with primary CoQ10 deficiency.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.