Fabry disease

R Schiffmann - Handbook of clinical neurology, 2015 - Elsevier
Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the
GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and
includes a systemic vasculopathy. As a result, patients have a markedly increased risk of
developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and
chronic kidney disease. Virtually all complications of Fabry disease are non-specific in
nature and clinically indistinguishable from similar abnormalities that occur in the context of …