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Case Reports in Medicine
Volume 2013 (2013), Article ID 903546, 3 pages
http://dx.doi.org/10.1155/2013/903546
Case Report

Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia

1Department of Clinical Emergencies, LIM 51, University of São Paulo School of Medicine, Rua Peixoto Gomide, 515 Conjunto 134, 01409-001 Bela Vista, SP, Brazil
2Department of Gastroenterology, Digestive Surgery Division, University of São Paulo School of Medicine, Avenida Doutor Enéas de Carvalho Aguiar 255, Instituto Central, 9° Andar, Sala 9074, 05403-900 Cerqueira Cesar, SP, Brazil

Received 16 June 2013; Accepted 31 July 2013

Academic Editor: Piotr K. Janicki

Copyright © 2013 Marcel Cerqueira Cesar Machado et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hyperammonemia related to urea cycle disorders is a rare cause of potentially fatal encephalopathy that is encountered in intensive care units (ICUs). Left undiagnosed, this condition may manifest irreversible neuronal damage. However, timely diagnosis and treatment initiation can be facilitated simply by increased awareness of the ICU staff. Here, we describe a patient with acute severe pancreatitis who developed hyperammonemia and encephalopathy without liver disease. Urea cycle disorder was suspected and hemodialysis was initiated. Following reduction of ammonia levels, subsequent treatment included protein restriction and administration of arginine and sodium benzoate. The patient was discharged to home after 47 days with plasma ammonia within normal range and without neurological symptoms. In clinical care settings, patients with neurological symptoms unexplained by the present illness should be assessed for serum ammonia levels to disclose any urea cycle disorders to initiate timely treatment and improve outcome.