Fabry's disease: a multidisciplinary disorder. Issue 865 (November 1997)

• Record Type: Journal Article
• Authors: Peters, F. P.; Sommer, A.; Vermeulen, A.; Cheriex, E. C.; Kho, T. L.
• Is Part Of: Postgraduate medical journal. Volume 73:Issue 865(1997)
• Page Start: 710
• Page End: 712
• Publication Date: 1997-11
• Subjects: Medicine -- Periodicals; 610
• DOI: 10.1136/pgmj.73.865.710
• Languages: English
• ISSNs: 0032-5473

Abstract

Abstract : Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.