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

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

사립체 질환: 새로운 위대한 모방자가 될 것인가?

Mitochondrial Disease: Will it become a New Great Imitator?

  • 김영한 (한림대학교 춘천성심병원 소아청소년과) ;
  • 안석민 (한림대학교 춘천성심병원 소아청소년과) ;
  • 서영준 (한림대학교 춘천성심병원 소아청소년과) ;
  • 윤종형 (한림대학교 춘천성심병원 소아청소년과) ;
  • 배은주 (한림대학교 춘천성심병원 소아청소년과) ;
  • 이홍진 (한림대학교 춘천성심병원 소아청소년과)
  • Kim, Young Han (Department of Pediatrics, Hallym University College of Medicine) ;
  • Ahn, Seok Min (Department of Pediatrics, Hallym University College of Medicine) ;
  • Seo, Young Jun (Department of Pediatrics, Hallym University College of Medicine) ;
  • Yoon, Jong Hyung (Department of Pediatrics, Hallym University College of Medicine) ;
  • Bae, Eun Ju (Department of Pediatrics, Hallym University College of Medicine) ;
  • Lee, Hong Jin (Department of Pediatrics, Hallym University College of Medicine)
  • 발행 : 2016.12.31
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초록

Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Diagnosis of mitochondrial disease is difficult, subtle, and has many problems. It is more likely to miss the diagnosis of mitochondrial disease, especially in borderline cases where the symptoms of the disease are not severe. In this regard, urine organic acid analysis is noninvasive and can increase the sensitivity and specificity through repeated load test with few changes according to the specimen. And, It is considered to be suitable as a screening test for mitochondrial diseases because it has a great advantage of distinguishing from organic aciduria, urea cycle disorder and fatty acid oxidation disorder which may have similar symptoms. The purpose of this study was to investigate the clinical features and age distribution of mitochondrial diseases diagnosed by organic acid analysis and to establish the policy of diagnosis and treatment based on this study.

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