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A Case of Citrullinemia.

Journal of the Korean Pediatric Society 1987;30(7):797-804.
Published online July 31, 1987.
A Case of Citrullinemia.
Bok Lyun Kim1, Sung Myun Won1, Hong Kee Pang1, Dong Wan Lee1, Sang Joo Lee1, Kikumaru Aoki2
1Department of Pediatrics, College of Medicine, Soon Chun Hyang University, Seoul, Korecr
2Aiiku Maternal and Child Health Center
Citrullinemia 1례
김복련1, 원성면1, 방흥기1, 이동환1, 이상주1, 靑 木 菊 磨2
1순천향의대 소아과학교실
2日本母子愛育會總合母子保健센타
Abstract
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 elevated plasma citrulline (36.4 mg/dl), and ammonia level (above 500 pg%). After 15 days treatment with protein restriction (0.5 g/kg/d), sodium benzoate (250 mg/kg/d) and arginine, he was discharged with normal plasma ammonia level (below 200 /zg%), and he is growing well until now by continous treatment with low protein diet (1.5 g/kg/d), sodium benzoate (250 mg/kg/d) and arginine (330 mg/kg/d). A brief review of literature was made.
Key Words: Citrullinemia, Urea Cycle disorder.


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