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Case Reports
Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
- Timothy R Bates, Barry D Lewis, John R Burnett, Kenji So, Andrew Mitchell, Luc Delriviere, and Gary P Jeffrey.
- Department of Internal Medicine, Swan District Hospital, Middle Swan, Western Australia, Australia. timothy.bates@health.wa.gov.au
- Liver Transpl. 2011 Dec 1;17(12):1481-4.
AbstractUrea cycle disorders (UCDs) are rare causes of hyperammonemic encephalopathy in adults. Most UCDs present in childhood and, if unrecognized, are rapidly fatal. Affected individuals who survive to adulthood may remain undiagnosed because of clinicians' unawareness of the condition or atypical presentations. We describe the case of a 49-year-old man who initially presented with a stroke and developed hyperammonemic encephalopathy over a period of 8 months. A diagnosis of carbamoyl phosphate synthetase type 1 deficiency was made, and the patient was referred for liver transplantation. One year after liver transplantation, the patient had normal plasma ammonia concentrations and had returned to work.Copyright © 2011 American Association for the Study of Liver Diseases.
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