Neonatal Medicine

  • 제18권1호
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  • Pages.143-147
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  • 2011
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  • 2287-9412(pISSN)
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  • 2287-9803(eISSN)
대한신생아학회 (The Korean Society of Neonatology)
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The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea

  • Hwang, In-Ok (Department of Pediatrics, Gumi CHA Hospital, CHA University College of Medicine) ;
  • Lee, Eun-Sil (Department of Pediatrics, College of Medicine, Yeungnam University)
  • 발행 : 2011.05.31
⟨ 이전 논문 다음 논문 ⟩

초록

ASAuria는 요소회로이상증 중의 하나로 드물게 나타나는 상염색체 열성으로 유전되는 대사 질환이다. 체내에 ASA가 축적됨으로서 신생아 시기에 구토, 기면, 수유 곤란, 의식 장애를 보이며 적절한 조치를 하지 않으면 사망에 이르게 되는 치명적인 대사 질환이다. 이 질환은 혈중과 소변에 ASA가 증가하는 것으로 진단할 수 있다. 국내에서는 고전적 형태의 ASAuria가 아직 보고된 사례는 없으며, 이에 본 저자들은 고전적 ASAuria로 진단된 환아에서 유전자 검사를 통해 보인자 부모로부터 출생하였음을 진단한 신생아 환자 1예를 경험하였기에 보고하는 바이다.

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.

키워드

참고문헌

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