Maaswinkel-Mooij P D, Van den Bogert C, Scholte H R, Onkenhout W, Brederoo P, Poorthuis B J
Department of Pediatrics, University Hospital Leiden, The Netherlands.
J Pediatr. 1996 May;128(5 Pt 1):679-83. doi: 10.1016/s0022-3476(96)80134-x.
An infant with feeding difficulties, hypotonia, lactic acidemia, and severe hypoketotic hypoglycemia died at the age of 7 months of liver disease. Electron microscopy revealed abnormal mitochondria. Biochemical studies of mitochondrial enzymes in liver showed a decreased activity of complexes I, III, and IV. Mitochondrial DNA (mtDNA) content was reduced in liver 7% of the mean value in control subjects) and in muscle (50%). In kidney, brain, and heart, the mtDNA content was normal. The liver-specific mtDNA depletion syndrome in this patient manifested itself with features of both a respiratory chain defect and a mitochondrial fatty acid oxidation defect. Syndromes involving depletion of mtDNA can be diagnosed only when the activity of the respiratory chain enzymes and the content of mtDNA are investigated in the most affected tissues.
一名患有喂养困难、肌张力减退、乳酸性酸中毒和严重低酮性低血糖症的婴儿在7个月大时死于肝脏疾病。电子显微镜检查显示线粒体异常。肝脏中线粒体酶的生化研究表明，复合物I、III和IV的活性降低。肝脏中线粒体DNA（mtDNA）含量降低（为对照受试者平均值的7%），肌肉中mtDNA含量降低（为50%）。在肾脏、大脑和心脏中，mtDNA含量正常。该患者的肝脏特异性mtDNA耗竭综合征表现出呼吸链缺陷和线粒体脂肪酸氧化缺陷的特征。只有在受影响最严重的组织中研究呼吸链酶的活性和mtDNA的含量时，才能诊断出涉及mtDNA耗竭的综合征。
