JOURNAL ARTICLE
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy.
Journal of Clinical Gastroenterology 2008 Februrary
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.
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