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.
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