Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Citrullinemia Diagnosed at the Neonatal Period

신생아기에 진단된 Citrullinemia 1례

  • Song, Seung Kyu (Department of Pediatrics, Hanil General Hospital) ;
  • Oh, Kyung Chang (Department of Pediatrics, Hanil General Hospital) ;
  • Hong, Mi Ae (Department of Pediatrics, Hanil General Hospital) ;
  • Kim, Hee Taeg (Department of Pediatrics, Hanil General Hospital) ;
  • Shin, Hye Jung (Department of Pediatrics, Hanil General Hospital) ;
  • Kim, Soon Young (Department of Pediatrics, Hanil General Hospital) ;
  • Chang, Jin Keun (Department of Pediatrics, Hanil General Hospital) ;
  • Jo, Heui Seung (Department of Pediatrics, College of Medicine, Seoul National University) ;
  • Kim, Beyong Il (Department of Pediatrics, College of Medicine, Seoul National University) ;
  • Yang, Sei Won (Department of Pediatrics, College of Medicine, Seoul National University) ;
  • Choi, Jung-Hwan (Department of Pediatrics, College of Medicine, Seoul National University)
  • 송승규 (한일병원 소아과) ;
  • 오경창 (한일병원 소아과) ;
  • 홍미애 (한일병원 소아과) ;
  • 김희택 (한일병원 소아과) ;
  • 신혜정 (한일병원 소아과) ;
  • 김순영 (한일병원 소아과) ;
  • 장진근 (한일병원 소아과) ;
  • 조희승 (서울대학교 의과대학 소아과학교실) ;
  • 김병일 (서울대학교 의과대학 소아과학교실) ;
  • 양세원 (서울대학교 의과대학 소아과학교실) ;
  • 최중환 (서울대학교 의과대학 소아과학교실)
  • Received : 2001.08.23
  • Accepted : 2001.09.27
  • Published : 2002.04.15
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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.

Citrullinemia는 유전성 대사 질환 중 하나로서 argininosuccinic acid synthetase 결손에 의해 발생하는 질병이다. 구토, 기면 또는 보챔, 경련, 의식장애와 같은 증상이 고암모니아혈증에 의해 초래되고 고암모니아혈증을 신속히 치료해야만 비가역적인 뇌손상을 줄일 수 있다. 저자들은 소변 유기산 분석과 혈중 및 요중 아미노산 분석에 의해 citrullinemia 1례를 경험했기에 이에 문헌 고찰과 함께 보고하는 바이다.

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