Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
作者信息
Picker Jonathan D, Puga Ana C, Levy Harvey L, Marsden Deborah, Shih Vivian E, Degirolami Umberto, Ligon Keith L, Cederbaum Stephen D, Kern Rita M, Cox Gerald F
机构信息
Divisions of Genetics and Neuropathology, Children's Hospital Boston, the Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA.
出版信息
J Pediatr. 2003 Mar;142(3):349-52. doi: 10.1067/mpd.2003.97.
PMID:12640389
Abstract
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.
摘要
Zotero 插件