Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
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.
Picker
Jonathan D
JD
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
Puga
Ana C
AC
Levy
Harvey L
HL
Marsden
Deborah
D
Shih
Vivian E
VE
Degirolami
Umberto
U
Ligon
Keith L
KL
Cederbaum
Stephen D
SD
Kern
Rita M
RM
Cox
Gerald F
GF
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
D024361:Amino Acids, Basic; D005973:Glutamine; D000641:Ammonia; D001120:Arginine; D001119:Arginase