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Review
. 1997 Nov;73(865):710-2.
doi: 10.1136/pgmj.73.865.710.

Fabry's disease: a multidisciplinary disorder

F P Peters  1 , A Sommer, A Vermeulen, E C Cheriex, T L Kho
Affiliations
Review

Fabry's disease: a multidisciplinary disorder

F P Peters et al. Postgrad Med J. 1997 Nov.

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.

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