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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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10-year Analysis of Inherited Metabolic Diseases Diagnosed with Tandem Mass Spectrometry

탠덤 매스 검사(Tandem Mass Spectrometry)를 이용한 선천성 대사이상 선별검사 10년간의 분석

  • Lee, Bomi (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Lee, Jiyun (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Lee, Jeongho (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Kim, Suk Young (Department of Obstetric and Gynecology, Gachon Medical School) ;
  • Kim, Jong Won (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Min, Won-Ki (Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center) ;
  • Song, Woon Heung (Department of Clinical Pathology, Shinheung College) ;
  • Song, Jung Han (Department of Laboratory Medicine, Seoul National University Bundang Hospital) ;
  • Woo, Hang Jae (Department of Korea Population, Health and Welfare Association) ;
  • Yoon, Hye Ran (College of Pharmacy, DuksungWomens University) ;
  • Lee, Yong-Wha (Department of Laboratory Medicine College of Medicine, Soonchunhyang University Bucheon Hospital) ;
  • Choi, Koue Young (Department of Korea Population, Health and Welfare Association) ;
  • Choi, Tae Youn (Department of Pathology, College of Medicine, Soonchunhyang University) ;
  • Lee, Dong Hwan (Department of Pediatrics, College of Medicine, Soonchunhyang University)
  • 이보미 (순천향대학교 의과대학 소아과학교실) ;
  • 이지윤 (순천향대학교 의과대학 소아과학교실) ;
  • 이정호 (순천향대학교 의과대학 소아과학교실) ;
  • 김석영 (가천대길병원 산부인과) ;
  • 김종원 (성균관대학교 삼성서울병원 진단검사의학과) ;
  • 민영기 (울산의대 서울아산 어린이병원 진단검사의학과) ;
  • 손운흥 (신흥대학교 임상병리학과) ;
  • 송정한 (분당서울대학교병원 진단검사의학과) ;
  • 우향제 (인구보건복지협회) ;
  • 윤혜란 (덕성여자대학교 약학대학 약학과) ;
  • 이용화 (순천향대학교 부천병원 진단검사의학과) ;
  • 최교영 (인구보건복지협회) ;
  • 최태윤 (순천향대학교 서울병원 진단검사의학과) ;
  • 이동환 (순천향대학교 의과대학 소아과학교실)
  • Published : 2017.12.30
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Abstract

Purpose: From the early 1990's, use of Tandem mass spectrometry in neonatal screening test, made early stage detection of disorders that was not detectable by the previous methods of inspection. This research aims to evaluate the frequency of positive results in national neonatal screening test by Tandem mass spectrometry and its usefulness. Methods: A designated organization for inherited metabolic disorder executed neonatal screening test on newborns using Tandem mass spectrometry from January 2006 to December 2015, followed by the investigation of these data by the Planned Population Federation of Korea (PPFK), and this research analyzed those inspected data from the PPFK. Results: Among total childbirth of 4,590,606, from January 2006 to December 2015, 3,445,238 were selected for MS/MS and conduction rate was 75.1%. 261 out of the selected 3,445,238 were confirmed patients and for last decade, detection rate of total metabolic disorder was 1/13,205. In 261 confirmed patients, 120 had an amino acid metabolic disorder and its detection rate was 1/28,710 and 110 had an organic acid metabolic disorder and detection rate was 1/31,320. Also, 31 had a fatty acid metabolic disorder and detection rate was 1/13,205. Conclusion: Inherited metabolic disorder is very rare. Until now, it was difficult to precisely grasp an understanding on the national incidence of inherited metabolic disorder, due to lack of overall data and inconsistent and incomplete long-term result analysis. However, this research attempted to comprehensively approach the domestic incidence, by analyzing previous 10 years of data.

Keywords

References

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