Two cases of Fabry disease identified in brothers.
10.3345/kjp.2010.53.2.235
- Author:
Ji Eun CHO
1
;
Yong Hee HONG
;
Yang Gyun LEE
;
Han Wook YOO
;
Dong Hwan LEE
Author Information
1. Department of Pediatrics, College of Medicine SoonChunHyang University, Seoul, Korea. ldh@hosp.sch.ac.kr
- Publication Type:Case Report
- Keywords:
Fabry disease;
Mutation;
Enzyme replacement therapy
- MeSH:
alpha-Galactosidase;
Child;
Enzyme Replacement Therapy;
Fabry Disease;
Humans;
Siblings
- From:Korean Journal of Pediatrics
2010;53(2):235-238
- CountryRepublic of Korea
- Language:English
-
Abstract:
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the alpha-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.
