与ADCK3相关的辅酶Q10缺乏症：一种潜在可治疗的遗传疾病。
ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.
作者信息
Chang Anna, Ruiz-Lopez Marta, Slow Elizabeth, Tarnopolsky Mark, Lang Anthony E, Munhoz Renato P
机构信息
Morton and Gloria Shulman Movement Disorders Clinic, Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, UHN, Division of Neurology University of Toronto Toronto Ontario Canada.
Department of Neurology Shin Kong Wu Ho-Su Memorial Hospital Taipei Taiwan.
出版信息
Mov Disord Clin Pract. 2018 Oct 9;5(6):635-639. doi: 10.1002/mdc3.12667. eCollection 2018 Nov-Dec.
BACKGROUND
Disorders related to dysfunction of coenzyme (CoQ) metabolism, including AarF domain containing kinase 3 gene (ADCK3) mutations, have received attention due to the potential for response to CoQ 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 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.
背景
与辅酶（CoQ）代谢功能障碍相关的疾病，包括含AarF结构域激酶3基因（ADCK3）突变，因其对辅酶Q补充剂可能产生反应而受到关注。
方法
我们描述了两例因ADCK3突变导致的神经综合征新病例，他们从辅酶Q10中获得了显著益处，还有一例未获益处。我们还回顾了文献中的20例病例，在之前报告的38例病例中，这些病例对辅酶Q10的反应有记录。
结果
尽管在一些共济失调和运动障碍（肌阵挛、肌张力障碍、震颤）病例中有显著反应，但总体而言，我们无法确定预测辅酶Q补充剂反应的变量。
结论
根据我们的经验和文献数据，我们建议至少给予10毫克/千克/天的泛醌，并滴定至15毫克/千克/天，至少维持6个月，以获得或排除治疗的潜在益处。
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