CARBAMOYLPHOSPHATE: L-ORNITHINE CARBAMOYLTRANSFERASE

An enzyme that catalyzes the transfer of a carbamyl group from carbamyl phosphate to ornithine to form citrulline; it is a constituent reaction of the urea cycle. This enzyme normally occurs in the mitochondria of liver cells, but only to a minute extent in serum. Since it does not occur to a significant extent in serum, kidney, brain, etc., and only 1% or 2% of the hepatic concentration occurs in small intestine, its presence in serum is a specific indica_x0002_tion of damage to liver cells.

Mutations in ornithine transcarbamylase cause Ornithine transcarbamylase deficiency which prevents the clearance of the byproduct ammonia leading to hyperammonemia.