Clin Chim Acta. 1975 Jun; 61(2): 215-8.

Plasma carnosinase deficiency in patients with urea cycle defects.

Burgess EA, Oberholzer VG, Palmer T, Levin B.

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.