Korean J Nephrol.
2002 Nov;21(6):1015-1019.
A Case of Fabry Disease Diagnosed by Molecular Analysis of alpha-galactosidase A Gene
- Affiliations
-
- 1Department of Internal Medicine, College of Medicine, Yonsei University, Seoul, Korea. hyl@yumc.yonsei.ac.kr
- 2Department of Clinical Genetics, College of Medicine, Yonsei University, Seoul, Korea.
- 3Department of Diagnostic Pathology, College of Medicine, Yonsei University, Seoul, Korea.
Abstract
- Fabry disease is a X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. This abnormality in enzyme results intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. We report a 35 year-old man who had been suffered from acroparesthesia aggravated by body temperature elevation and with asymptomatic renal function impairment, which were proven to be due to Fabry disease. We performed gene analysis by PCR direct sequencing and confirmed missense mutation of GLA gene. Recently enzyme replacement of alpha-galactosidase was introduced and we think that the importance of early diagnosis and treatment should be emphasized.
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