Persistent Acitrullinemia after Liver Transplantation for Carbamylphosphate Synthetase Deficiency

Publisher Website
Google Scholar
Abstract
To the Editor: Liver transplantation is currently the only available form of enzyme-replacement therapy for patients with severe inherited defects in the urea cycle. A patient with carbamylphosphate synthetase I deficiency recently underwent orthotopic liver transplantation. This procedure cured the hyperammonemia but failed to increase the plasma citrulline level, which was undetectable.The patient, who is now 26 months old, was born at term after a normal pregnancy, labor, and delivery. On the second day of life, he became lethargic and then comatose. His plasma ammonia level was found to be 1065 μmol per liter, and he was transferred to . . .

This publication has 2 references indexed in Scilit: