title: Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
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.
authors.affiliation: Department of Internal Medicine, Swan District Hospital, Middle Swan, Western Australia, Australia. timothy.bates@health.wa.gov.au
authors.forename: Timothy R
authors.initials: TR
authors.lastname: Bates
authors.forename: Barry D
authors.initials: BD
authors.lastname: Lewis
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
authors.forename: Kenji
authors.initials: K
authors.lastname: So
authors.forename: Andrew
authors.initials: A
authors.lastname: Mitchell
authors.forename: Luc
authors.initials: L
authors.lastname: Delriviere
authors.forename: Gary P
authors.initials: GP
authors.lastname: Jeffrey
mesh_terms: D017668:Age of Onset; D001928:Brain Diseases, Metabolic / Q000209:etiology; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease; D006801:Humans; D022124:Hyperammonemia / Q000209:etiology; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D020521:Stroke / Q000209:etiology; D016896:Treatment Outcome; D056806:Urea Cycle Disorders, Inborn / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000601:surgery*
chemical_list: D007166:Immunosuppressive Agents; D002222:Carbamoyl-Phosphate Synthase (Ammonia)