Open AccessFabry's disease: a case report and review of literatures reported in Korea
Author(s) -
Seung Yong Lee,
Seung Jung Kim,
Jung Il Lee,
Eun Sook Kim,
Chang Hoon Lee,
Jeong-Ho Kim,
Hyeon Joo Jeong,
Sung Kyu Ha
Publication year - 1998
Publication title -
yonsei medical journal/yonsei medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 63
eISSN - 1976-2437
pISSN - 0513-5796
DOI - 10.3349/ymj.1998.39.1.67
Subject(s) - fabry's disease , glycosphingolipid , globotriaosylceramide , fabry disease , pathology , medicine , disease , cerebroside , hexa , endocrinology , chemistry , biochemistry
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.