Yonsei Med J.
1998 Feb;39(1):67-72. 10.3349/ymj.1998.39.1.67.
Fabry's disease: a case report and review of literatures reported in Korea
- Affiliations
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- 1Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
- 2Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea.
- 3Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
- KMID: 711529
- DOI: http://doi.org/10.3349/ymj.1998.39.1.67
Abstract
- Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and trihexoside) in most body fluids and tissues. Accumulation of neutral glycosphingolipids occurs within the lysosomes of endothelial, perithelial, and smooth muscle cells of the myocardial and renal systems; to a lesser extent in reticuloendothelial and connective cells of the cornea; and in ganglion and perineural cells of the autonomic nervous system. In Korea, 7 cases of Fabry's disease have been reported. A 29-year-old man with fever and headache had typical skin findings and a family history of Fabry's disease, and it was confirmed through renal biopsy and enzyme assay for alpha-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea.
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