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ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease
Author(s) -
Chang Anna,
RuizLopez Marta,
Slow Elizabeth,
Tarnopolsky Mark,
Lang Anthony E.,
Munhoz Renato P
Publication year - 2018
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12667
Subject(s) - coenzyme q10 , dystonia , ataxia , myoclonus , medicine , movement disorders , disease , pediatrics , mitochondrial disease , bioinformatics , genetics , gene , psychiatry , biology , mitochondrial dna
Background Disorders related to dysfunction of coenzyme (CoQ 10 ) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ 10 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 CoQ 10 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.