Detection of urea cycle enzymopathies in childhood.
Inborn errors of ureagenesis must be considered in the differential diagnosis of recurrent vomiting and lethargy in childhood. Elevations of liver enzyme levels are often present during these episodes and may lead to an erroneous diagnosis of hepatic encephalopathy. We studied two cases of urea cycle defects.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D000641:Ammonia / Q000097:blood; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014508:Urea / Q000378:metabolism*
D000641:Ammonia; D014508:Urea; D002222:Carbamoyl-Phosphate Synthase (Ammonia)