Journal
JOURNAL OF CLINICAL GASTROENTEROLOGY
Volume 42, Issue 2, Pages 213-214Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/01.mcg.0000225628.84168.25
Keywords
urea cycle defect; encephalopathy; hyperammonemia
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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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