| A Case of Citrullinemia |
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Dong Soo Park, Dong Un Kim, Sang Ook Park, Ik Jun Lee |
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Department of Pediatrics, Catholic University Medical College, Seoul, Korea |
| Citrullinemia 1례 |
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박동수, 김동언, 문상욱, 이익준 |
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가톨릭대학교 의과대학 소아과학교실 |
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| Abstract |
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Citrullinemia is one of the five urea cycle defects and is caused by argininosuccinic acid synthetase deficiency ; conversion of citrulline to argininosuccinic acid is blocked. Severe hyperammonemia typically develops in the neonate within a few days and symptoms such as vomiting, lethargy, convulsion, coma follows rapidly. The diagnosis is supported by high citrulline level in serum, urine, CSF and decreased activity of argininosuccinic acid synthetase in liver biopsy.
We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature. |
| Key Words:
Citrullinemia, Urea cycle defects |
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