Plasma carnosinase deficiency in patients with urea cycle defects.
A complete absence of plasma carnosinase activity was observed in a series of patients with proven urea cycle defects. This finding could not be explained by age of patients, low protein intake, or inhibition of the enzyme by glutamine or carbamyl phosphate.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D002221:Carbamyl Phosphate / Q000097:blood; D002336:Carnosine; D002648:Child; D002675:Child, Preschool; D014676:Diet, Vegetarian; D004150:Dipeptidases / Q000037:antagonists & inhibitors / Q000097:blood*; D005973:Glutamine / Q000097:blood; D006801:Humans; D007223:Infant; D014508:Urea / Q000378:metabolism
D005973:Glutamine; D002221:Carbamyl Phosphate; D002336:Carnosine; D014508:Urea; D004150:Dipeptidases