Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 12 Issue 2
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- Pages.108-112
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- 2012
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- 2287-4712(pISSN)
Glycogen Storage Disease Type III Confirmed by AGL Gene Analysis
AGL 유전자 검사로 확진된 제 3a형 당원병 1례
- Suh, Junghwan (Department of Pediatrics, Yonsei University College of Medicine) ;
- Koo, Kyo Yeon (Department of Clinical Genetics, Yonsei University College of Medicine) ;
- Kim, Kyu Yeun (Department of Pediatrics, Yonsei University College of Medicine) ;
- Lee, Chul Ho (Department of Clinical Genetics, Yonsei University College of Medicine) ;
- Yang, Jeong Yoon (Department of Clinical Genetics, Yonsei University College of Medicine) ;
- Lee, Jin-Sung (Department of Clinical Genetics, Yonsei University College of Medicine)
- 서정환 (연세대학교 의과대학 소아청소년과) ;
- 구교연 (연세대학교 의과대학 임상유전과) ;
- 김규연 (연세대학교 의과대학 소아청소년과) ;
- 이철호 (연세대학교 의과대학 임상유전과) ;
- 양정윤 (연세대학교 의과대학 임상유전과) ;
- 이진성 (연세대학교 의과대학 임상유전과)
- Published : 2012.12.31
Abstract
Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-
제 3형 당원병 (Glycogen Storage disease, Type III: OMIM #232400)은 상염색체 열성 유전을 하는 매우 드문 유전 질환으로, 1p21 염색체에 존재하는 AGL 유전자 (OMIM *610860)로부터 전사되는 글리코겐을 분해하는 효소인 가지제거효소(amylo-1,6 Glucosidase; EC 3.2.1.33 and 1,4-