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Fabry disease is an X-linked lipid storage disease caused by a deficiency of alpha-galactosidase, with onset in childhood or adolescence. Features of the disorder can include peripheral neuropathies, decreased sweating, angiokeratomas, renal disease, characteristic eye changes, cerebrovascular involvement and GI disturbances to name a few. Many carrier females can be symptomatic. In males, Fabry disease can be diagnosed by measuring the activity of alpha-galactosidase in leukocytes or cultured fibroblasts. Enzyme assay is not a reliable method of diagnosing females and further testing using DNA may be necessary.
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