title: Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
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.
authors.affiliation: 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
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Picker
authors.forename: Ana C
authors.initials: AC
authors.lastname: Puga
authors.forename: Harvey L
authors.initials: HL
authors.lastname: Levy
authors.forename: Deborah
authors.initials: D
authors.lastname: Marsden
authors.forename: Vivian E
authors.initials: VE
authors.lastname: Shih
authors.forename: Umberto
authors.initials: U
authors.lastname: Degirolami
authors.forename: Keith L
authors.initials: KL
authors.lastname: Ligon
authors.forename: Stephen D
authors.initials: SD
authors.lastname: Cederbaum
authors.forename: Rita M
authors.initials: RM
authors.lastname: Kern
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Cox
mesh_terms: D024361:Amino Acids, Basic / Q000097:blood; D000641:Ammonia / Q000097:blood; D001119:Arginase / Q000032:analysis; D001120:Arginine / Q000097:blood; D001929:Brain Edema / Q000151:congenital* / Q000378:metabolism; D005260:Female; D005973:Glutamine / Q000097:blood*; D006801:Humans; D020162:Hyperargininemia; D007231:Infant, Newborn; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D006435:Renal Dialysis
chemical_list: D024361:Amino Acids, Basic; D005973:Glutamine; D000641:Ammonia; D001120:Arginine; D001119:Arginase