Fabry's disease: a case report and review of literatures reported in Korea.
- Author:
Seung Yong LEE
1
;
Seung Jung KIM
;
Jung Il LEE
;
Eun Sook KIM
;
Chang Hoon LEE
;
Jeong Ho KIM
;
Hyeon Joo JEONG
;
Sung Kyu HA
Author Information
- Publication Type:Case Reports ; Review
- Keywords: Fabry,s disease; alpha-galactosidase; glycosphingolipids
- MeSH: Adult; Case Report; Fabry Disease/pathology*; Fabry Disease/metabolism; Fabry Disease/diagnosis; Human; Male
- From:Yonsei Medical Journal 1998;39(1):67-72
- CountryRepublic of Korea
- Language:English
- 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.
