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JOURNAL ARTICLE

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema

Jonathan D Picker, Ana C Puga, Harvey L Levy, Deborah Marsden, Vivian E Shih, Umberto Degirolami, Keith L Ligon, Stephen D Cederbaum, Rita M Kern, Gerald F Cox

Journal of Pediatrics 2003, 142 (3): 349-52

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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Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema

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