Primary Coenzyme Q10 Deficiency Overview

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

Excerpt

The purpose of this overview is to:

  1. 1

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

  2. 2

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

  3. 3

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

  4. 4

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

  5. 5

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

  6. 6

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

Publication types

  • Review