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Case Report

Bok Lyun Kim, Sung Myun Won, Hong Kee Pang, Dong Wan Lee, Sang Joo Lee, Kikumaru Aoki

Clin Exp Pediatr. 1987;30(7):797-804. Published online July 31, 1987

Citrullinemia is an urea cycle enzymopathy, which is characterized by hyperammonemia, high citrulline levle in serum, CSF, urine and decreased activity of argininosuccinic acid synthetase in liver biopsy. The clinical symptoms are vomiting, lethergy, seizures, coma and ultimately in death if the hyperammonemia is noit controlled. We experienced a 46-day-old male infant with vomiting, seizure and coma, who is diagnosed as citrullinemia by markedly...

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