title: Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency.
abstract: 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 micromol/l), 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.
authors.affiliation: Department of Anesthesiology and General Intensive Care, University of Vienna, General Hospital of Vienna, Austria. walter.ploechl@univie.ac.at
authors.forename: W
authors.initials: W
authors.lastname: Plöchl
authors.forename: E
authors.initials: E
authors.lastname: Plöchl
authors.forename: H
authors.initials: H
authors.lastname: Pokorny
authors.forename: S
authors.initials: S
authors.lastname: Kozek-Langenecker
authors.forename: J
authors.initials: J
authors.lastname: Zacherl
authors.forename: S
authors.initials: S
authors.lastname: Stöckler-Ipsiroglu
authors.forename: B
authors.initials: B
authors.lastname: Wermuth
authors.forename: C K
authors.initials: CK
authors.lastname: Spiss
authors.forename: F
authors.initials: F
authors.lastname: Mühlbacher
mesh_terms: D000328:Adult; D000368:Aged; D001929:Brain Edema / Q000209:etiology; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology; D016031:Liver Transplantation / Q000009:adverse effects; D008297:Male; D009102:Multiple Organ Failure / Q000209:etiology / Q000401:mortality; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014019:Tissue Donors