Korean J Pediatr.
2010 Feb;53(2):235-238. 10.3345/kjp.2010.53.2.235.
Two cases of Fabry disease identified in brothers
- Affiliations
-
- 1Department of Pediatrics, College of Medicine SoonChunHyang University, Seoul, Korea. ldh@hosp.sch.ac.kr
- 2Department of Physical Medicine & Rehabilitation, College of Medicine SoonChunHyang University, Seoul, Korea.
- 3Department of Pediatrics, Asan Medical Center College of Medicine, University of Ulsan, Seoul, Korea.
- KMID: 2281372
- DOI: http://doi.org/10.3345/kjp.2010.53.2.235
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.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Fabry Disease in a Family: Four Patients and Five Carriers
- Fabry's disease: a case report and review of literatures reported in Korea
- Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy
- A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease
- Two Cases of Xeroderma Pigmentosum in Brothers
