All issues > Volume 30(7); 1987

Case Report

J Korean Pediatr Soc. 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

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.

Keywords :Citrullinemia; Urea Cycle disorder.