Open AccessMultiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency
Author(s) -
Plöchl W.,
KozekLangenecker S.,
Spiss C.K.,
Plöchl E.,
Pokorny H.,
Zacherl J.,
Mühlbacher F.,
StöcklerIpsiroglu S.,
Wermuth B.
Publication year - 2001
Publication title -
transplant international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.998
H-Index - 82
eISSN - 1432-2277
pISSN - 0934-0874
DOI - 10.1111/j.1432-2277.2001.tb00041.x
Subject(s) - medicine , hyperammonemia , ornithine transcarbamylase deficiency , coma (optics) , liver transplantation , urea cycle , ornithine transcarbamylase , gastroenterology , transplantation , surgery , biochemistry , chemistry , physics , amino acid , arginine , optics
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 multiorgan procurement from a donor who died of cerebral edema due to unrecognized late‐onset OTC deficiency. The donor's OTC deficiency was diagnosed retrospectively since the liver graft recipient developed cerebral edema postoperatively due to hyperammonemia. Plasma ammonia was extremely elevated (3793 umol/1), but was not accompanied by general liver dysfunction. Post mortem, the diagnosis of OTC deficiency was established by enzyme and molecular analysis in a biopsy of the transplanted liver. In contrast to the fatal course of the liver graft recipient, the kidney, lung, and heart transplantations 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.