Primary coenzyme Q10 deficiency

A rare genetic disorder of ubiquinone biosynthesis. Presents with encephalomyopathy, nephrotic syndrome, cardiomyopathy, and cerebellar ataxia. High-dose CoQ10 therapy (10–30 mg/kg/day) is the only disease-modifying approach.

ICD-10 E88.41 drug

Also known as: Mitochondrial CoQ10 deficiency

Drugs used for this condition

AUbidecarenone (coenzyme Q10)First line · Other cardiac preparations. Coenzyme Q10High-dose CoQ10 (10–30 mg/kg/day, in adults up to 1,200–2,400 mg daily) is the only disease-modifying approach to the rare inherited primary CoQ10 deficiency. Early therapy in children prevents progression of encephalopathy and nephrotic syndrome; in adults it stabilises cerebellar ataxia. GeneReviews and international mitochondrial disease guidelines support this use.

How to read tiers A–F

Evidence tiers belong to the drug-indication pair, not to the drug as a whole: the same substance can be A for one condition and F for another.

AStrong evidence – first or second line in international guidelines
BRecommended in selected cases
CStudy data contradict each other
DBenefit not proven, no documented harm
FDocumented harm, or risk without benefit