Primary Coenzyme Q10 Deficiency Overview

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.