Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy.
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.
Atiq
Muslim
M
Division of Gastroenterology, University Hospital of Cincinnati, Cincinnati, OH, USA.
Holt
Andrew F
AF
Safdar
Kamran
K
Weber
Frederick
F
Ravinuthala
Ravi
R
Jonas
Mark E
ME
Neff
Guy W
GW
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*
D005938:Glucocorticoids; D010654:Phenylbutyrates; D014508:Urea; D020160:Sodium Benzoate; D011241:Prednisone