Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
Liver Transpl
; 17(12): 1481-4, 2011 Dec.
Article
en En
| MEDLINE
| ID: mdl-21837743
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trasplante de Hígado
/
Trastornos Innatos del Ciclo de la Urea
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Liver Transpl
Asunto de la revista:
GASTROENTEROLOGIA
/
TRANSPLANTE
Año:
2011
Tipo del documento:
Article
País de afiliación:
Australia