Journal of Pediatrics 2003-Mar
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Il collegamento viene salvato negli appunti
Parole chiave
Astratto
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.