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

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Ketolytic Defects in Children and Adolescents

소아청소년기의 케톤분해이상질환군

  • Choi, Joong Wan (Department of Pediatrics, Hallym University Medical Center) ;
  • Ahn, Seok Min (Department of Pediatrics, Hallym University Medical Center) ;
  • Kim, Young Han (Department of Pediatrics, Hallym University Medical Center) ;
  • Baek, Joon Woo (Department of Pediatrics, Hallym University Medical Center) ;
  • Ryu, Hye Won (Department of Pediatrics, Hallym University Medical Center) ;
  • Bae, Eun Joo (Department of Pediatrics, Hallym University Medical Center) ;
  • Lee, Hong Jin (Department of Pediatrics, Hallym University Medical Center)
  • 최중완 (한림대학교 춘천성심병원 소아청소년과) ;
  • 안석민 (한림대학교 춘천성심병원 소아청소년과) ;
  • 김영한 (한림대학교 춘천성심병원 소아청소년과) ;
  • 백준우 (한림대학교 춘천성심병원 소아청소년과) ;
  • 류혜원 (한림대학교 춘천성심병원 소아청소년과) ;
  • 배은주 (한림대학교 춘천성심병원 소아청소년과) ;
  • 이홍진 (한림대학교 춘천성심병원 소아청소년과)
  • Published : 2015.12.25
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Abstract

Purpose: 3HB and AcAc are two ketone bodies that can be used as energy source in brain via succinyl-CoA:3-ketoacid CoA transferase (SCOT) and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2), called ketolysis. In case of malfunction of these enzymes, ketolysis cannot occur fluently causing various clinical manifestations. We want to know the numbers of patients and clinical manifestations of ketolytic defects in Korea. Material: For 67 patients of ketolytic defects out of 2794 patients that have done urine organic acid analysis, we analyzed clinical manifestations and age distribution. The study period was from January 2007 to September 2015. Method: To confirm persistency of ketonuria, repeated and loading organic acid analysis were done at least 1 week period interval. SPSS was used for statistical analysis. Result: Thirty patients in infantile period (2 M-2 Y), 31 patients in childhood period (2 Y-12 Y), 5 patients after adolescent period (>12 Y) and 1 in neonatal period were diagnosed during the study period. The most frequent chief complaint was seizure followed by seizure with developmental delay and developmental delay only. Conclusion: Ketolytic defects were not so rare in Korea. Major clinical manifestations are seizure and developmental delay or mental retardation.

목적: 우리나라 케톤분해이상질환군의 연령별분포, 임상양상 등을 알아보고자 본 연구를 시행하였다. 방법: 2007년 1월부터 2015년 9월 사이에 소변유기산분석을 시행하였던 2,794명의 환자 중에서 반복부하 유기산분석으로 진단된 67명의 케톤분해이상질환군환자들의 임상양상을 분석하였다. 결과: 케톤분해이상질환군 환자의 분포는 신생아기 1명, 영아기 30명, 소아기 31명, 청소년기 5명으로 나타났고, 가장 많은 주증상은 경련발작이었으며 발달지연을 동반한 경련발작, 발달지연 등이 뒤를 이었다. 결론: 우리나라의 발병빈도는 다른 나라에 비하여 높은 것으로 판단되며, 소아청소년과 의사들의 관심이 필요하다고 판단된다.

Keywords

References

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