Fabry's Disease - A Case Report and Review of Literatures Reported in Korea

Seung Yong Lee, Seung Jung Kim, Jung Il Lee, Eun Sook Kim, Chang Hoon Lee, Jeong Ho Kim, Hyeon Joo Jeong, Sung Kyu Ha

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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 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 α-galactosidase. We report a case of Fabry's disease with a review of the literatures reported in Korea.

Original languageEnglish
Pages (from-to)67-72
Number of pages6
JournalYonsei Medical Journal
Issue number1
StatePublished - 1998


  • Fabry's disease
  • Glycosphingolipids
  • α-galactosidase


Dive into the research topics of 'Fabry's Disease - A Case Report and Review of Literatures Reported in Korea'. Together they form a unique fingerprint.

Cite this