Korean J Gastroenterol.
2002 May;39(5):379-385.
A Case of Adult-type Citrullinemia with Hyperammonemia
- Affiliations
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- 1Department of Internal Medicine, Soon Chun Hyang University College of Medicine, Chonan, Korea. khskhs@schch.co.kr
- 2Department of Pediatrics, Soon Chun Hyang Seoul Hospital, Seoul, Korea.
Abstract
- Adult type citrullinemia is a urea cycle enzymopathy, which is characterized by hyperammonemia, high citrulline level in serum and decreased activity of argininosuccinic acid synthetase in liver biopsy. Clinical symptoms are vomiting, lethargy, seizure, and coma. It can lead to death if the hyperammonemia is not controlled. We should consider this rare metabolic disease for adult patient who has mental change and hyperammonemia without liver disease and brain disease. We experienced a 55-year-old female with generalized weakness, insomnia and lethargy, who was diagnosed as having citrullinemia by high elevated plasma citrulline, ammonia level. We report this unusual case of adult type citrullinemia with a brief review of the related literature.
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