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A Case of Citrullinemia Diagnosed at the Neonatal Period

Journal of the Korean Pediatric Society 2002;45(4):524-528.
Published online April 15, 2002.
A Case of Citrullinemia Diagnosed at the Neonatal Period
Seung Kyu Song1, Kyung Chang Oh1, Mi Ae Hong1, Hee Taeg Kim1, Hye Jung Shin1, Soon Young Kim1, Jin Keun Chang1, Heui Seung Jo2, Beyong Il Kim2, Sei Won Yang2, Jung-Hwan Choi2
1Department of Pediatrics, Hanil General Hospital, Seoul, Korea
2Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
신생아기에 진단된 Citrullinemia 1례
송승규1, 오경창1, 홍미애1, 김희택1, 신혜정1, 김순영1, 장진근1, 조희승2, 김병일2, 양세원2, 최중환2
1한일병원 소아과
2서울대학교 의과대학 소아과학교실
Jin Keun Chang, Email: atomjin@kepco.co.kr
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.
Key Words: Citrullinemia, Urea cycle, Ammonia, Amino acid analysis

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