The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea.
10.5385/jksn.2011.18.1.143
- Author:
In Ok HWANG
1
;
Eun Sil LEE
Author Information
1. Department of Pediatrics, Gumi CHA Hospital, CHA University College of Medicine, Seongnam, Korea.
- Publication Type:Case Report
- Keywords:
Argininosuccinic aciduria;
Argininosuccinate lyase;
Newborn
- MeSH:
Argininosuccinate Lyase;
Argininosuccinic Aciduria;
Coma;
Consciousness;
Female;
Humans;
Hyperammonemia;
Infant, Newborn;
Korea;
Lethargy;
Parturition;
Point Mutation;
Urea Cycle Disorders, Inborn
- From:Journal of the Korean Society of Neonatology
2011;18(1):143-147
- CountryRepublic of Korea
- Language:English
-
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.
