Naviaux R K, Nyhan W L, Barshop B A, Poulton J, Markusic D, Karpinski N C, Haas R H
Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California-San Diego, La Jolla, USA.
Ann Neurol. 1999 Jan;45(1):54-8. doi: 10.1002/1531-8249(199901)45:1<54::aid-art10>3.0.co;2-b.
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.
在一名患有线粒体DNA耗竭和阿尔珀斯综合征的患者中发现了线粒体DNA聚合酶γ活性缺乏。代谢评估显示空腹低血糖、二羧酸尿症以及骨骼肌中电子传递链活性降低。该患者在幼儿期死于暴发性肝衰竭、难治性癫痫、乳酸性酸中毒和昏迷。骨骼肌中线粒体DNA含量为正常的30%，肝脏中为25%。线粒体DNA聚合酶γ的活性无法检测到。
