Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Medium-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate

무증상 신생아에서 진단된 중쇄 acyl-CoA 탈수소효소 결핍증 1례

  • Kyung, Yechan (Departments of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Huh, Rimm (Departments of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Kwun, Younghee (Departments of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Lee, Jieun (Departments of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Departments of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Departments of Pediatrics, Sungkyunkwan University School of Medicine) ;
  • Lee, Jeongho (Departments of Pediatrics, Soonchunhyang University School of Medicine) ;
  • Lee, Dong Hwan (Departments of Pediatrics, Soonchunhyang University School of Medicine)
  • 경예찬 (성균관대학교 의과대학 소아과학교실) ;
  • 허림 (성균관대학교 의과대학 소아과학교실) ;
  • 권영희 (성균관대학교 의과대학 소아과학교실) ;
  • 이지은 (성균관대학교 의과대학 소아과학교실) ;
  • 조성윤 (성균관대학교 의과대학 소아과학교실) ;
  • 진동규 (성균관대학교 의과대학 소아과학교실) ;
  • 이정호 (순천향대학교 의과대학 소아과학교실) ;
  • 이동환 (순천향대학교 의과대학 소아과학교실)
  • Published : 2015.04.25
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Abstract

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common mitochondrial fatty acid oxidation disorder which is inherited as an autosomal recessive pattern. MCAD deficiency is caused by mutations in the ACADM gene; medium-chain acyl-CoA dehydrogenase gene (ACADM; OMIM 607008) on chromosome 1p31 which encodes MCAD, the mitochondrial enzyme which catalyzes the first reaction in beta-oxidation of fatty acids with medium-chain length. Here, we describe one Korean pediatric case of MCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of hexanoyl (C6), octanoyl (C8), decenoyl (C10:1) carnitine, and C8/C2 ratio was elevated. Homogenous c.1189T>A (p.Tyr397Asn) mutation of ACADM gene was identified by direct sequencing. He has been asymptomatic and has shown normal growth and development by 25 months of age without any intervention. There was no episode of metabolic acidosis during follow-up period.

중쇄 acyl-CoA 탈수소효소 결핍증은 미토콘드리아에 존재하는 효소 중 하나인 MCAD의 부족으로 인하여 적절한 지방산 산화가 이루어지지 못하는 대사질환으로 지방산 산화와 관련된 대사 질환 중 가장 흔한 형태이다. 다양한 임상증상으로 저혈당, 발달지연, 발작, 돌연사 등이 나타날 수 있다. 저자들은 신생아 선별검사상 C6, C8, C10:1 acylcarnitine, C8/C2 ratio 혹은 C8/C10 ratio의 증가를 보이는 무증상의 신생아에서 유전자 분석검사를 통해 MCAD 결핍증을 진단하였다. 생후 10개월 경, 고열을 동반한 전신 강직성간대경련 발생하였으나 혈액검사 상 저혈당은 관찰되지 않았고 발열 호전된 후 추가적인 경련은 없었다. 이후 생후 25개월까지 추적관찰 하였을 때 경련을 포함한 증상 없었고, 정상적인 성장과 발달을 보였다. 무증상의 신생아에서 신생아 선별검사를 통해 우연히 MCAD 결핍증으로 진단된 후 1회의 열성경련 발생하였으나 대사성 위기없이 정상적인 성장 및 발달을 보이고 있는 환아가 있어 이에 증례를 보고하는 바이다.

Keywords

References

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