Prenatal and progressive coenzyme Q administration to mitigate muscle dysfunction in mitochondrial disease.

Background: ADCK genes encode aarF domain-containing mitochondrial kinases involved in coenzyme Q (CoQ) biosynthesis and regulation. Haploinsufficiency of ADCK2 in humans leads to adult-onset physical incapacity with reduced mitochondrial CoQ levels in skeletal muscle, resulting in mitochondrial myopathy and alterations in fatty acid β-oxidation. The sole current treatment for CoQ deficiencies is oral administration of CoQ, which causes only partial recovery with postnatal treatment, underscoring the importance of early diagnosis for successful intervention.