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Neonatal Med > Volume 18(1); 2011 > Article
Journal of the Korean Society of Neonatology 2011;18(1):143-147.
DOI: https://doi.org/10.5385/jksn.2011.18.1.143    Published online May 15, 2011.
The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea.
In Ok Hwang, Eun Sil Lee
1Department of Pediatrics, Gumi CHA Hospital, CHA University College of Medicine, Seongnam, Korea.
2Department of Pediatrics, College of Medicine, Yeungnam University, Daegu, Korea. les2055@ynu.ac.kr
Abstract
Argininosuccinic aciduria (ASAuria) is a rare autosomal recessive urea cycle disorder. Neonatal presentation of ASAuria is the most common form. It is characterized by lethargy, feeding intolerance, decreased consciousness, and coma after 24 to 72 hours of birth. We describe a rare case of ASAuria in a female neonate who presented with severe hyperammonemia, a typical characteristic of urea cycle disorders. This patient's diagnosis was confirmed by biochemical analyses, and we found that the patient had a point mutation of the argininosuccinate lyase gene, which was homozygous for a novel 556C>T substitution. We have never seen the neonatal form of ASAuria in Korea. Therefore, this is the first report of neonatal onset ASAuria in Korea.
Key Words: Argininosuccinic aciduria, Argininosuccinate lyase, Newborn


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