| A Case of Citrullinemia. |
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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 |
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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 |
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| Abstract |
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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.
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| Key Words:
Citrullinemia, Urea Cycle disorder.
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