Progression despite replacement of a myopathic form of coenzyme Q10 defect
Progression despite replacement of a myopathic form of coenzyme Q10 defect
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DOI：
10.1212/01.wnl.0000134607.76780.b2
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发表时间：
2004-08-24
期刊：
影响因子：
9.9
通讯作者：
Lombès, A
中科院分区：
文献类型：
--
作者：
Auré, K;Benoist, JF;Lombès, A
作者报告了一名辅酶Q（10）缺乏症患者7年的随访评估。运动不耐受和高乳酸血症的初始症状在替代治疗后明显改善。然而，补充辅酶Q（10）并不能预防小脑综合征的发生。转换为艾地苯醌治疗导致临床和代谢恶化，随后的辅酶Q（10）治疗消失。辅酶Q（10）缺陷可能会导致进行性神经系统疾病，尽管补充。
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q(10) (CoQ(10)) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ(10) supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ(10) treatment. CoQ(10) defects may cause progressive neurologic disease despite supplementation.