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Fabry's disease: a case report and review of literatures reported in Korea

Authors
 Seung Yong Lee  ;  Seung Jung Kim  ;  Jung Il Lee  ;  Eun Sook Kim  ;  Chang Hoon Lee  ;  Jeong Ho Kim  ;  Hyeon Joo Jeong  ;  Sung Kyu Ha 
Citation
 YONSEI MEDICAL JOURNAL, Vol.39(1) : 67-72, 1998 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
1998
MeSH
Adult ; Fabry Disease/diagnosis ; Fabry Disease/metabolism ; Fabry Disease/pathology* ; Humans ; Male
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(α)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal α 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 α-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea.
Files in This Item:
T199803016.pdf Download
DOI
10.3349/ymj.1998.39.1.67
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Jeong Ho(김정호) ORCID logo https://orcid.org/0000-0003-2479-0548
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/177027
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