RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
Journal of Pediatrics 2003 March
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.
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