Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency

Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, shows a spectrum of severity ranging from severe neonatal hyperammonemic coma to no symptoms among adults. We report on the multiorga n procurement from a donor who died of cerebral edema due to unrecognized l ate-onset OTC deficiency. The donor's OTC deficiency was diagnosed retrospe ctively since the liver graft recipient developed cerebral edema postoperat ively due to hyperammonemia. Plasma ammonia was extremely elevated (3793 mu mol/l), but was not accompanied by general liver dysfunction. Post mortem. the diagnosis of OTC deficiency was established by enzyme and molecular an alysis in a biopsy of the transplanted liver. In contrast to the fatal cour se of the liver graft recipient, the kidney, lung, and heart transplantatio ns were successful. Ten months after transplantation these recipients were alive and showed good graft function. This case demonstrates the importance of careful donor evaluation. particularly if the donor's cause of death is obscure.