Fabry's disease: a case report and review of literatures reported in Korea
Yonsei Medical Journal
;
: 67-72, 1998.
Article
in English
| WPRIM
| ID: wpr-152235
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Fabry Disease
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Yonsei Medical Journal
Year:
1998
Type:
Article
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