PT  - JOURNAL ARTICLE
AU  - Choi, Choong-Gon
AU  - Yoo, Han Wook
TI  - Localized Proton MR Spectroscopy in Infants with Urea Cycle Defect
DP  - 2001 May 01
TA  - American Journal of Neuroradiology
PG  - 834--837
VI  - 22
IP  - 5
4099  - http://www.ajnr.org/content/22/5/834.short
4100  - http://www.ajnr.org/content/22/5/834.full
SO  - Am. J. Neuroradiol.2001 May 01; 22
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.