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J Pediatr. 2003 Mar;142(3):349-52.

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

Author information

1
Divisions of Genetics and Neuropathology, Children's Hospital Boston, the Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA. jonathan.picker@tch.harvard.edu

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.

PMID:
12640389
DOI:
10.1067/mpd.2003.97
[Indexed for MEDLINE]
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