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Two cases of Fabry disease identified in brothers

Korean Journal of Pediatrics 2010;53(2):235-238.
Published online February 15, 2010.
Two cases of Fabry disease identified in brothers
Ji Eun Cho1, Yong Hee Hong1, Yang Gyun Lee1, Han Wook Yoo1, Dong Hwan Lee1
1Department of Pediatrics, College of Medicine SoonChunHyang University, Seoul, Korea
1Department of Pediatrics, College of Medicine SoonChunHyang University, Seoul, Korea
1Department of Pediatrics, College of Medicine SoonChunHyang University, Seoul, Korea
1Department of Pediatrics, College of Medicine SoonChunHyang University, Seoul, Korea
1Department of Pediatrics, College of Medicine SoonChunHyang University, Seoul, Korea
형제에서 발견된 파브리병 2례
조지은1, 홍용희1, 이양균1, 유한욱1, 이동환1
1순천향대학교 의과대학 소아과학교실
1순천향대학교 의과대학 소아과학교실
1순천향대학교 의과대학 소아과학교실
1순천향대학 의과대학 재활의학과교실
1울산대학교 의과대학 소아과학교실
Correspondence: 
Dong Hwan Lee, Tel: +82.2-709-9341, Fax: +82.2-709-9135, Email: ldh@hosp.sch.ac.kr
Abstract
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.
Key Words: Fabry disease, Mutation, Enzyme replacement therapy


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