All issues > Volume 45(4); 2002

Case Report

J Korean Pediatr Soc. 2002;45(4):524-528. Published online April 15, 2002.

A Case of Citrullinemia Diagnosed at the Neonatal Period

Seung Kyu SK Song¹, Kyung Chang KC Oh¹, Mi Ae MA Hong¹, Hee Taeg HT Kim¹, Hye Jung HJ Shin¹, Soon Young SY Kim¹, Jin Keun JK Chang¹, Heui Seung HS Jo², Beyong Il BI Kim², Sei Won SW Yang², Jung-Hwan JH Choi²

¹Department of Pediatrics, Hanil General Hospital, Seoul, Korea
²Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea

Correspondence Jin Keun JK Chang ,Email: atomjin@kepco.co.kr

Abstract

Citrullinemia is a rare inborn error of metabolism of the urea cycle, and was first reported by McMurray, et al. in 1962. It is inherited as an autosomal recessive trait. The normal synthesis of argininosuccinic acid is blocked in this disease due to a deficiency of argininosuccinic acid synthetase(AS), which has been demonstrated in liver cells and fibroblasts. The clinical symptoms are vomiting, lethargy or irritability, convulsion and mental retardation. The diagnosis is made by the finding of an increased plasma citrulline level. Every effort should be made to reduce the blood ammonia level as rapidly as possible before irreversible brain damage occurs. This report describes a case of citrullinemia that was diagnosed through organic acid analysis and amino acid analysis, and reviews the related literatures.

Keywords :Citrullinemia, Urea cycle, Ammonia, Amino acid analysis