Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency
Objective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be substantially hyperammonemic and did not impr...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Critical Care |
| Online Access: | http://dx.doi.org/10.1155/2013/493216 |
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| author | Daniel L. Roberts David A. Galbreath Bhavesh M. Patel Timothy J. Ingall Amer Khatib Daniel J. Johnson |
| author_facet | Daniel L. Roberts David A. Galbreath Bhavesh M. Patel Timothy J. Ingall Amer Khatib Daniel J. Johnson |
| author_sort | Daniel L. Roberts |
| collection | DOAJ |
| description | Objective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be substantially hyperammonemic and did not improve with lactulose therapy and continuous venovenous hemodialysis. Results. Biochemical testing revealed previously undiagnosed ornithine transcarbamylase deficiency, and the patient responded to arginine, sodium phenylacetate, and sodium benzoate. Conclusion. Even in adult patients with no known history, inborn errors of metabolism must be considered in the differential diagnosis of unexplained coma. Defects of the urea cycle can present with an unprovoked hyperammonemic coma. |
| format | Article |
| id | doaj-art-d2ed9666975d4a2496ec9548e4ae9cb5 |
| institution | OA Journals |
| issn | 2090-6420 2090-6439 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Critical Care |
| spelling | doaj-art-d2ed9666975d4a2496ec9548e4ae9cb52025-08-20T02:19:51ZengWileyCase Reports in Critical Care2090-64202090-64392013-01-01201310.1155/2013/493216493216Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase DeficiencyDaniel L. Roberts0David A. Galbreath1Bhavesh M. Patel2Timothy J. Ingall3Amer Khatib4Daniel J. Johnson5Division of Hospital Internal Medicine, Department of Medicine, Mayo Clinic, Phoenix, AZ 85054, USAKansas City Family Medical Clinic, Kansas City, MO 64114, USADepartment of Critical Care Medicine, Mayo Clinic, Phoenix, AZ 85054, USADepartment of Neurology, Mayo Clinic, Phoenix, AZ 85054, USADivision of Gastroenterology, Faculty of Medicine, University of Jordan, Amman 11942, JordanDepartment of Surgery, Mayo Clinic, Phoenix, AZ 85054, USAObjective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be substantially hyperammonemic and did not improve with lactulose therapy and continuous venovenous hemodialysis. Results. Biochemical testing revealed previously undiagnosed ornithine transcarbamylase deficiency, and the patient responded to arginine, sodium phenylacetate, and sodium benzoate. Conclusion. Even in adult patients with no known history, inborn errors of metabolism must be considered in the differential diagnosis of unexplained coma. Defects of the urea cycle can present with an unprovoked hyperammonemic coma.http://dx.doi.org/10.1155/2013/493216 |
| spellingShingle | Daniel L. Roberts David A. Galbreath Bhavesh M. Patel Timothy J. Ingall Amer Khatib Daniel J. Johnson Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency Case Reports in Critical Care |
| title | Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency |
| title_full | Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency |
| title_fullStr | Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency |
| title_full_unstemmed | Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency |
| title_short | Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency |
| title_sort | hyperammonemic coma in an adult due to ornithine transcarbamylase deficiency |
| url | http://dx.doi.org/10.1155/2013/493216 |
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