Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema
Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema
复制标题
DOI：
10.1067/mpd.2003.97
复制
发表时间：
2003-03-01
影响因子：
5.1
通讯作者：
Cox, GF
中科院分区：
文献类型：
--
作者：
Picker, JD;Puga, AC;Cox, GF
我们描述了一名 2 日龄女婴精氨酸酶缺乏症的罕见致命病例，患有脑病和脑水肿。谷氨酰胺和精氨酸的水平显着升高，但氨的水平没有显着升高，这为“谷氨酰胺假说”作为尿素循环缺陷中脑水肿的机制提供了支持。
We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects.