Dataset Information
ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.
Ontology highlight
ABSTRACT: 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 CoQ10 were documented out of all 38 previously reported cases.Results
Despite the remarkable responses in some cases with ataxia and movement disorders (myoclonus, dystonia, tremor), overall, we were not able to identify variables that predicted response to CoQ10 supplementation.Conclusions
Based on our experience and data from the literature, we recommend a minimum of 10?mg/kg/day of ubiquinone with titration up to 15?mg/kg/day, maintained at least for 6 months in order to obtain or exclude potential benefit from therapy.
SUBMITTER: Chang A
PROVIDER: S-EPMC6277365 | biostudies-literature | 2018 Nov-Dec
REPOSITORIES: biostudies-literature
Publications
ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.
Movement disorders clinical practice 20181009 6
<h4>Background</h4>Disorders related to dysfunction of coenzyme (CoQ<sub>10</sub>) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ<sub>10</sub> supplementation.<h4>Methods</h4>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 CoQ10 were documente ...[more]