Orthotopic liver transplantation for urea cycle enzyme deficiency
Satoru Todo, Thomas E. Starzl, Andreas Tzakis, Keith J. Benkov, Frantisek Kalousek, Takeyori Saheki, Kyuichi Tanikawa, Wayne A. Fenton – 1 March 1992 – Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14‐day‐old boy with carbamyl phosphate synthetase‐I deficiency and in a 35‐yr‐old man with argininosuccinic acid synthetase deficiency. The first patient had high plasma glutamine levels and no measureable citrulline, whereas citrulline values were markedly increased in Patient 2.