A Case of Citrullinemia Diagnosed at the Neonatal Period.
- Author:
Seung Kyu SONG
1
;
Kyung Chang OH
;
Mi Ae HONG
;
Hee Taeg KIM
;
Hye Jung SHIN
;
Soon Young KIM
;
Jin Keun CHANG
;
Heui Seung JO
;
Beyong Il KIM
;
Sei Won YANG
;
Jung Hwan CHOI
Author Information
1. Department of Pediatrics, Hanil General Hospital, Korea. atomjin@kepco.co.kr
- Publication Type:Case Report
- Keywords:
Citrullinemia;
Urea cycle;
Ammonia;
Amino acid analysis
- MeSH:
Ammonia;
Argininosuccinic Acid;
Brain;
Citrulline;
Citrullinemia*;
Diagnosis;
Fibroblasts;
Intellectual Disability;
Lethargy;
Liver;
Metabolism;
Plasma;
Seizures;
Urea;
Vomiting
- From:Journal of the Korean Pediatric Society
2002;45(4):524-528
- CountryRepublic of Korea
- Language:Korean
-
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.
