Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.
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DOI：
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发表时间：
1999
影响因子：
11.2
通讯作者：
R. Naviaux;W. Nyhan;B. Barshop;J. Poulton;D. Markusic;N. Karpinski;R. Haas
中科院分区：
文献类型：
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作者：
R. Naviaux;W. Nyhan;B. Barshop;J. Poulton;D. Markusic;N. Karpinski;R. Haas
线粒体DNA聚合酶γ活性缺乏被发现在患者mtDNA耗竭和阿尔珀斯综合征。代谢评估显示空腹低血糖，二羧酸尿，骨骼肌电子传递链活性降低。患者死于儿童早期暴发性肝功能衰竭、难治性癫痫、乳酸血症和昏迷。骨骼肌mtDNA含量为正常的30%，肝脏mtDNA含量为正常的25%。未检测到mtDNA聚合酶γ的活性。
Deficiency of mitochondrial DNA polymerase gamma activity was found in a patient with mtDNA depletion and Alpers' syndrome. Metabolic evaluation revealed fasting hypoglycemia, dicarboxylic aciduria, and reduced activity of the electron transport chain in skeletal muscle. The patient died in early childhood of fulminant hepatic failure, refractory epilepsy, lactic acidemia, and coma. mtDNA content was 30% of normal in skeletal muscle and 25% in the liver. The activity of mtDNA polymerase gamma was undetectable.