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