1.
J Clin Gastroenterol
; 42(2): 213-4, 2008 Feb.
Article
in English
| MEDLINE
| ID: mdl-18209596
ABSTRACT
Deficiency of any of the 5 enzymes in the urea cycle results in the accumulation of ammonia, leading to encephalopathy; which if untreated, can be lethal and produce devastating neurologic sequelae in long-term survivors. We hereby present an interesting case that presented with hyperammonemia and encephalopathy; later found to have an urea cycle defect.
Subject(s)
Hepatic Encephalopathy/diagnosis , Hyperammonemia/diagnosis , Hyperammonemia/etiology , Metabolism, Inborn Errors/diagnosis , Urea/metabolism , Diagnosis, Differential , Glucocorticoids/adverse effects , Humans , Hyperammonemia/drug therapy , Male , Middle Aged , Phenylbutyrates/therapeutic use , Prednisone/adverse effects , Sodium Benzoate/therapeutic use
2.
