Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency.
Analysis of pyrimidine synthesis de novo intermediates and pyrimidine degradation products in urine samples from a decompensated patient with an ornithine transcarbamylase deficiency showed a strikingly aberrant metabolic profile. Strongly elevated levels of N-carbamyl-aspartate, orotate and uracil were present whereas the concentration of uridine was only marginally increased. The level of pyrimidine excretion appeared to be independent of the ammonia levels in blood, which were only mildly increased.
van Kuilenburg
A B P
AB
Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl
van Maldegem
B T
BT
Abeling
N G G M
NG
Wijburg
F A
FA
Duran
M
M
D000641:Ammonia / Q000097:blood; D002648:Child; D002851:Chromatography, High Pressure Liquid; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008956:Models, Chemical; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000401:mortality / Q000652:urine*; D011743:Pyrimidines / Q000737:chemistry* / Q000378:metabolism; D014508:Urea / Q000737:chemistry*; D014529:Uridine / Q000378:metabolism
D011743:Pyrimidines; D000641:Ammonia; D014508:Urea; D014529:Uridine