Hiding in Plain Sight: A Case of Ornithine Transcarbamylase Deficiency Unmasked Post–Liver Transplantation

Meera Ramanathan*, S. Uppalapu, N. M. Patel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1405-1408
Number of pages4
JournalAmerican Journal of Transplantation
Volume17
Issue number5
DOIs
StatePublished - May 2017

Keywords

  • clinical research/practice
  • donors and donation: donor evaluation
  • donors and donation: extended criteria
  • liver allograft function/dysfunction
  • liver transplantation/hepatology

ASJC Scopus subject areas

  • Immunology and Allergy
  • Transplantation
  • Pharmacology (medical)

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