- Case Report
- A Case of Citrullinemia
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Dong Soo Park, Dong Un Kim, Sang Ook Park, Ik Jun Lee
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Clin Exp Pediatr. 1997;40(4):584-587. Published online April 15, 1997
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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... |
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