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RT Journal Article
SR Electronic
T1 Localized Proton MR Spectroscopy in Infants with Urea Cycle Defect
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 834
OP 837
VO 22
IS 5
A1 Choi, Choong-Gon
A1 Yoo, Han Wook
YR 2001
UL http://www.ajnr.org/content/22/5/834.abstract
AB Summary: Urea cycle defect is an inborn error of ammonium metabolism caused by a deficient activity of the enzymes involved in urea synthesis. Localized short-TE proton MR spectroscopy, performed in two infants who had citrullinemia and ornithine transcarbamylase deficiency, respectively, showed a prominent increase of glutamine/glutamate and lipid/lactate complex in both cases. N-acetylaspartate, total creatine, and myo-inositol were decreased in the infant with citrullinemia. Proton MR spectroscopy provided useful information for the diagnosis and understanding of the pathophysiology of urea cycle enzyme defect.