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Hiding in Plain Sight: A Case of Ornithine Transcarbamylase Deficiency Unmasked Post–Liver Transplantation
Author(s) -
Ramanathan M.,
Uppalapu S.,
Patel N. M.
Publication year - 2017
Publication title -
american journal of transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.89
H-Index - 188
eISSN - 1600-6143
pISSN - 1600-6135
DOI - 10.1111/ajt.14174
Subject(s) - ornithine transcarbamylase deficiency , medicine , urea cycle , liver transplantation , ornithine transcarbamylase , transplantation , cirrhosis , carbamyl phosphate , gastroenterology , pediatrics , genetics , enzyme , biochemistry , biology , amino acid , arginine
Ornithine transcarbamylase deficiency represents the most common inherited defect of the urea cycle. This enzyme, predominantly found in the liver, plays a crucial role in recycling free ammonia, with deficiencies often leading to fatal complications. Here, we present the case of a 63‐year‐old man with alcoholic cirrhosis who underwent orthotopic liver transplantation, gradual worsening of his mental status, and progressive elevation of ammonia levels. Liver allograft function was deemed normal, raising concern for a donor‐derived metabolic disorder of the urea cycle. Evaluation of the donor patient's blood revealed that the donor was heterozygous for the OTC gene. Posttransplantation changes in mental status should prompt a clinician to consider the most likely causes; however, once these have been ruled out, it is important to consider the less common causes of metabolic derangements. The rarity of these disorders makes expertise of diagnosis, standardization of evaluation, and treatment strategies challenging.