title: Fabry's disease--a case report and review of literatures reported in Korea.
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.
authors.affiliation: Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: S Y
authors.initials: SY
authors.lastname: Lee
authors.forename: S J
authors.initials: SJ
authors.lastname: Kim
authors.forename: J I
authors.initials: JI
authors.lastname: Lee
authors.forename: E S
authors.initials: ES
authors.lastname: Kim
authors.forename: C H
authors.initials: CH
authors.lastname: Lee
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
authors.forename: H J
authors.initials: HJ
authors.lastname: Jeong
authors.forename: S K
authors.initials: SK
authors.lastname: Ha
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008297:Male