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J Clin Gastroenterol. 2008 Feb;42(2):213-4. doi: 10.1097/01.mcg.0000225628.84168.25.

Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy.

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Division of Gastroenterology, University Hospital of Cincinnati, Cincinnati, OH, USA.


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.

[Indexed for MEDLINE]

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