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Case Report

A Case of Citrullinemia Diagnosed at the Neonatal Period

Seung Kyu Song, 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

Clin Exp Pediatr. 2002;45(4):524-528. Published online April 15, 2002

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...

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