ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease

BACKGROUND: Disorders related to dysfunction of coenzyme (CoQ₁₀) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ₁₀ supplementation. METHODS: We describe two new cases of neurological syndromes due to ADCK3 mutations that obtained striking benefit from CoQ10, and a third who did not. We also review 20 cases from the literature in which responses to …