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American Journal of Neuroradiology 22:834-837 (5 2001)
© 2001 American Society of Neuroradiology

ARTICLE

Localized Proton MR Spectroscopy in Infants with Urea Cycle Defect

Choong-Gon Choi,a and Han Wook Yooa

a From the Departments of Radiology (C.G.C.) and Pediatrics (H.W.Y), Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

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.




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