Premium
Late‐onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation
Author(s) -
Bates Timothy R.,
Lewis Barry D.,
Burnett John R.,
So Kenji,
Mitchell Andrew,
Delriviere Luc,
Jeffrey Gary P.
Publication year - 2011
Publication title -
liver transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.814
H-Index - 150
eISSN - 1527-6473
pISSN - 1527-6465
DOI - 10.1002/lt.22407
Subject(s) - hyperammonemia , liver transplantation , urea cycle , medicine , encephalopathy , carbamoyl phosphate synthetase , hepatic encephalopathy , pediatrics , transplantation , gastroenterology , endocrinology , biochemistry , biology , arginine , cirrhosis , amino acid , gene
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. Liver Transpl, 2011. © 2011 AASLD.