Atiq Muslim, Holt Andrew F, Safdar Kamran, Weber Frederick, Ravinuthala Ravi, Jonas Mark E, Neff Guy W
Division of Gastroenterology, University Hospital of Cincinnati, Cincinnati, OH, USA.
J Clin Gastroenterol. 2008 Feb;42(2):213-4. doi: 10.1097/01.mcg.0000225628.84168.25.
Deficiency of any of the 5 enzymes in the urea cycle results in the accumulation of ammonia, leading to encephalopathy; which if untreated, can be lethal and produce devastating neurologic sequelae in long-term survivors. We hereby present an interesting case that presented with hyperammonemia and encephalopathy; later found to have an urea cycle defect.
尿素循环中任何一种酶的缺乏都会导致氨的蓄积，进而引发脑病；如果不进行治疗，可能会致命，并在长期存活者中产生严重的神经后遗症。我们在此报告一例有趣的病例，该病例表现为高氨血症和脑病，后来发现存在尿素循环缺陷。
