All issues > Volume 40(4); 1997

Case Report

J Korean Pediatr Soc. 1997;40(4):584-587. Published online April 15, 1997.

A Case of Citrullinemia

Dong Soo DS Park¹, Dong Un DU Kim¹, Sang Ook SO Park¹, Ik Jun IJ Lee¹

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea

Abstract

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 decreased activity of argininosuccinic acid synthetase in liver biopsy. We experienced a 3-day-old male neonate with poor activity, lethargy, convulsion, and coma who was diagnosed as citrullinemia by markedly elevated plasma and urine citrulline level with hyperammonemia. We report this case with brief review of the related literature.

Keywords :Citrullinemia, Urea cycle defects