Fabry's disease: a multidisciplinary disorder.
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.
Peters
F P
FP
Department of Internal Medicine, University Hospital Maastricht, The Netherlands.
Sommer
A
A
Vermeulen
A
A
Cheriex
E C
EC
Kho
T L
TL
D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D005260:Female; D006801:Humans; D008297:Male