J Korean Soc Neonatol.  2011 May;18(1):143-147. 10.5385/jksn.2011.18.1.143.

The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea

• Hwang IO
• Lee ES

• KMID: 2188480
• DOI: http://doi.org/10.5385/jksn.2011.18.1.143

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.

Keyword

Argininosuccinic aciduria; Argininosuccinate lyase; Newborn

MeSH Terms

Argininosuccinate Lyase
Argininosuccinic Aciduria
Coma
Consciousness
Female
Humans
Hyperammonemia
Infant, Newborn
Korea
Lethargy
Parturition
Point Mutation
Urea Cycle Disorders, Inborn
Argininosuccinate Lyase