Primary Coenzyme Q10 Deficiency Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].


The following are the goals of this overview:

Goal 1: Briefly describe the clinical characteristics of primary coenzyme Q10 (CoQ10) deficiency.

Goal 2: Increase the awareness of clinicians regarding genetic causes of primary CoQ10 deficiency.

Goal 3: Review the differential diagnosis of primary CoQ10 deficiency with a focus on genetic conditions.

Goal 4: Provide an evaluation strategy to identify the genetic cause of primary CoQ10 deficiency in a proband.

Goal 5: Review management of primary CoQ10 deficiency, including targeted pharmacologic treatment with high-dose oral CoQ10 supplementation and supportive treatment.

Goal 6: Inform genetic counseling of family members of an individual with primary CoQ10 deficiency.

Publication types

  • Review