Brown T, Hug G, Lansky L, Bove K, Scheve A, Ryan M, Brown H, Schubert W K, Partin J C, Lloyd-Still J
N Engl J Med. 1976 Apr 15;294(16):861-7. doi: 10.1056/NEJM197604152941602.
Since Reye's syndrome is associated with hyperammonemia, we measured the urea-cycle enzymes in hepatic tissue of 13 patients. Expressed as nanomoles of citrulline per milligram of hepatic protein per minute, mean activity of carbamyl phosphate synthetase (6.27 +/- 2.45 S.D.) and ornithine transcarbamylase (136.19 +/- 41.83) in Reye's syndrome was reduced significantly (P less than 0.005) when compared with that of 25 "normal" controls (11.54 +/- 4.24 and 307.49 +/- 94.15, respectively). Activity was maximally reduced during the first days of clinical symptoms; it returned toward normal during the following week regardless of whether the disease ended in death or recovery. The activity of the two enzymes was normal in patients with salicylate intoxication or heritable argininosuccinic acid synthetase deficiency. The apparent Km of hepatic ornithine transcarbamylase for ornithine was in the normal range in patients with Reye's syndrome (mean 0.24 mM). These observations indicate that Reye's syndrome is associated with acquired and transient dysfunction of hepatic mitochondrial urea-cycle enzymes.
由于瑞氏综合征与高氨血症相关，我们检测了13例患者肝组织中的尿素循环酶。以每分钟每毫克肝蛋白中瓜氨酸的纳摩尔数表示，瑞氏综合征患者中氨甲酰磷酸合成酶（6.27±2.45标准差）和鸟氨酸转氨甲酰酶（136.19±41.83）的平均活性与25例“正常”对照者（分别为11.54±4.24和307.49±94.15）相比显著降低（P<0.005）。在临床症状出现的最初几天活性降至最低；在接下来的一周内无论疾病结局是死亡还是康复，活性都恢复至正常。水杨酸盐中毒或遗传性精氨琥珀酸合成酶缺乏患者的这两种酶活性正常。瑞氏综合征患者肝鸟氨酸转氨甲酰酶对鸟氨酸的表观Km在正常范围内（平均0.24 mM）。这些观察结果表明，瑞氏综合征与肝线粒体尿素循环酶的获得性和短暂性功能障碍有关。
