Primary Coenzyme Q10 Deficiency Overview

Excerpt

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.