Localized proton MR spectroscopy in infants with urea cycle defect.
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.
Choi
C G
CG
Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, 388-1 PoongNap-Dong, SongPa-Gu, Seoul 138-736, Republic of Korea.
Yoo
H W
HW
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D020159:Citrullinemia / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011522:Protons; D000644:Quaternary Ammonium Compounds / Q000378:metabolism*; D014508:Urea / Q000378:metabolism*
D011522:Protons; D000644:Quaternary Ammonium Compounds; D014508:Urea