Rapid laboratory confirmation of Fabry's disease: a reminder

SIR. Fabry's disease (angiokeratoma corporis difTusum) is an Xlinked disorder of glycosphingolipid catabolism. and is due to the defective activity of the lysosomal o-galactosidase in the tissues and fluids of affected males. This deficiency results in the accumulation of glycosphingolipids with terminal agalactosyl moieties, predominantly ceramide trihexoside. and to a lesser extent ceramide dihexoside and group B substances. The deposition of these substances in the lysosomes of the endothelial. peripheral and smooth-muscle cells of blood vessels, as well as in the heart, kidneys and eyes, results in a clinical picture which features acute pains and paraesthesiae in the extremities, vascular ectasia in the skin (angiokeratomas) and mucous membranes, corneal opacities and. later, progressive renal failure, cardiac failure, and cerebrovascular disease. Occasionally, the characteristic skin lesions are absent.