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Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
- Source :
-
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society [Liver Transpl] 2011 Dec; Vol. 17 (12), pp. 1481-4. - Publication Year :
- 2011
-
Abstract
- Urea 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.<br /> (Copyright © 2011 American Association for the Study of Liver Diseases.)
- Subjects :
- Age of Onset
Brain Diseases, Metabolic etiology
Carbamoyl-Phosphate Synthase (Ammonia) deficiency
Carbamoyl-Phosphate Synthase I Deficiency Disease
Humans
Hyperammonemia etiology
Immunosuppressive Agents therapeutic use
Male
Middle Aged
Stroke etiology
Treatment Outcome
Urea Cycle Disorders, Inborn complications
Urea Cycle Disorders, Inborn diagnosis
Urea Cycle Disorders, Inborn enzymology
Liver Transplantation
Urea Cycle Disorders, Inborn surgery
Subjects
Details
- Language :
- English
- ISSN :
- 1527-6473
- Volume :
- 17
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
- Publication Type :
- Academic Journal
- Accession number :
- 21837743
- Full Text :
- https://doi.org/10.1002/lt.22407