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Review

Primary Coenzyme Q10 Deficiency Overview

Leonardo Salviati  1 , Eva Trevisson  1 , Caterina Agosto  2 , Mara Doimo  1 , Placido Navas  3
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Primary Coenzyme Q10 Deficiency Overview

Leonardo Salviati et al.
Free Books & Documents

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.

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References

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