FABRYS-DISEASE - A MULTIDISCIPLINARY DISORDER

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