Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia
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 sim...
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Wiley
2013-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/903546 |
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| author | Marcel Cerqueira Cesar Machado Gilton Marques Fonseca José Jukemura |
| author_facet | Marcel Cerqueira Cesar Machado Gilton Marques Fonseca José Jukemura |
| author_sort | Marcel Cerqueira Cesar Machado |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-8558d963781141dba666408aa4696d63 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
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| series | Case Reports in Medicine |
| spelling | doaj-art-8558d963781141dba666408aa4696d632025-02-03T05:59:47ZengWileyCase Reports in Medicine1687-96271687-96352013-01-01201310.1155/2013/903546903546Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and HyperammonemiaMarcel Cerqueira Cesar Machado0Gilton Marques Fonseca1José Jukemura2Department of Clinical Emergencies, LIM 51, University of São Paulo School of Medicine, Rua Peixoto Gomide, 515 Conjunto 134, 01409-001 Bela Vista, SP, BrazilDepartment 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, BrazilDepartment 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, BrazilHyperammonemia 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.http://dx.doi.org/10.1155/2013/903546 |
| spellingShingle | Marcel Cerqueira Cesar Machado Gilton Marques Fonseca José Jukemura Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia Case Reports in Medicine |
| title | Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia |
| title_full | Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia |
| title_fullStr | Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia |
| title_full_unstemmed | Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia |
| title_short | Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia |
| title_sort | late onset ornithine carbamoyltransferase deficiency accompanying acute pancreatitis and hyperammonemia |
| url | http://dx.doi.org/10.1155/2013/903546 |
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