Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency
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DOI：
10.1016/j.mito.2006.04.001
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发表时间：
2006-06-01
期刊：
影响因子：
4.4
通讯作者：
Stacpoole, Peter W.
中科院分区：
文献类型：
--
作者：
Berendzen, Kristen;Theriaque, Douglas W.;Stacpoole, Peter W.
我们回顾了口服二氯醋酸盐（DCA）治疗丙酮酸脱氢酶复合物（PDC）突变引起的先天性乳酸酸中毒儿童的应用。分析了46例受试者的病史，包括诊断、临床表现和对DCA的反应。DCA降低血液和脑脊液乳酸浓度，并且通常耐受性良好。DCA可能是特别有效的PDC缺乏症的儿童刺激残留酶的活性，因此，细胞的能量代谢。需要进行对照试验以确定DCA在这种毁灭性疾病的管理中的明确作用。(c)2006 Elsevier B.V.和线粒体研究学会。All rights reserved.
We reviewed the use of oral dichloroacetate (DCA) in the treatment of children with congenital lactic acidosis caused by mutations in the pyruvate dehydrogenase complex (PDC). The case histories of 46 subjects were analyzed with regard to diagnosis, clinical presentation and response to DCA. DCA decreased blood and cerebrospinal fluid lactate concentrations, and was generally well tolerated. DCA may be particularly effective in children with PDC deficiency by stimulating residual enzyme activity and, consequently, cellular energy metabolism. A controlled trial is needed to determine the definitive role of DCA in the management of this devastating disease. (c) 2006 Elsevier B.V. and Mitochondria Research Society. All rights reserved.