The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea

Title
The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea
Author(s)
이은실황인옥[황인옥]
Keywords
Argininosuccinic aciduria; Argininosuccinate lyase; Newborn
Issue Date
201105
Publisher
대한신생아학회
Citation
Neonatal medicine, v.18, no.1, pp.143 - 147
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.
URI
http://hdl.handle.net/YU.REPOSITORY/25163
ISSN
2287-9412
Appears in Collections:
의과대학 > 소아청소년과학교실 > Articles
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