Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder.

Objective: Transplantation of isolated hepatocytes in animal models has been shown to correct inborn errors of metabolism. Based on these studies and our experience with hepatocyte transplantation in a child with Crigler-Najjar syndrome, isolated hepatocyte transplantation was performed to attempt metabolic reconstitution in a male infant with severe ornithine transcarbamylase (OTC) deficiency.

Methods: An infant with an antenatal diagnosis of OTC deficiency was managed intensively to prevent hyperammonemia.