title: Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy.
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.
authors.affiliation: Division of Gastroenterology, University Hospital of Cincinnati, Cincinnati, OH, USA.
authors.forename: Muslim
authors.initials: M
authors.lastname: Atiq
authors.forename: Andrew F
authors.initials: AF
authors.lastname: Holt
authors.forename: Kamran
authors.initials: K
authors.lastname: Safdar
authors.forename: Frederick
authors.initials: F
authors.lastname: Weber
authors.forename: Ravi
authors.initials: R
authors.lastname: Ravinuthala
authors.forename: Mark E
authors.initials: ME
authors.lastname: Jonas
authors.forename: Guy W
authors.initials: GW
authors.lastname: Neff
mesh_terms: D003937:Diagnosis, Differential; D005938:Glucocorticoids / Q000009:adverse effects; D006501:Hepatic Encephalopathy / Q000175:diagnosis*; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008875:Middle Aged; D010654:Phenylbutyrates / Q000627:therapeutic use; D011241:Prednisone / Q000009:adverse effects; D020160:Sodium Benzoate / Q000627:therapeutic use; D014508:Urea / Q000378:metabolism*
chemical_list: D005938:Glucocorticoids; D010654:Phenylbutyrates; D014508:Urea; D020160:Sodium Benzoate; D011241:Prednisone