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

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

무증상 신생아에서 진단된 경쇄 acyl-CoA 탈수소효소 결핍증 1례

  • Lee, Yeonhee (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jinsup (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Huh, Rimm (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 이연희 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 김진섭 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 허림 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 조성윤 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 진동규 (성균관대학교 의과대학 삼성서울병원 소아청소년과)
  • Published : 2015.08.25
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Abstract

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

경쇄 acyl-CoA 탈수소효소 결핍증(short chain acyl-CoA dehydrogenase deficiency, SCAD)은 미토콘드리아에서 일어나는 지방산 대사과정에서 베타-산화지방산의 산화에 장애를 일으키는 질환으로 임상증상으로는 저혈당, 근육긴장저하, 진행성 근육약화, 발달지연, 발작 등이 다양하게 나타날 수 있다. 저자들은 신생아 선별검사에서 지방산 대사의 질환의 양성 검사결과를 갖는 무증상 환아에서 추가적인 소변 유기산 분석 검사를 시행하였으며, 유전자 분석검사를 통해 질환을 진단하였다. 이후 환아의 임상적 증상 발현 유무를 관찰하였으며 조기 진단과 질환 악화요인에 대한 설명 및 교육을 통해 4년이 지난 현재까지 나이에 적합한 발달과 성장의 임상경과를 확인하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

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