All issues > Volume 53(2); 2010

Case Report

Korean J Pediatr. 2010;53(2):235-238. Published online February 15, 2010.

Two cases of Fabry disease identified in brothers

Ji Eun JE Cho¹, Yong Hee YH Hong¹, Yang Gyun YG Lee¹, Han Wook HW Yoo¹, Dong Hwan DH 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

Correspondence Dong Hwan DH 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.

Keywords :Fabry disease, Mutation, Enzyme replacement therapy