Abstract
Fabry disease is an inherited deficiency of the lysosomal hydrolase alpha-galactosidaseA (α-GalA) due to the mutation of Gal gene at Xq22. This results in intra-lysosomal accumulation of glycosphingolipids, mainly globotriaosilceramide (GL-3). Males with the classical phenotype of Fabry disease have no or very low levels of α-GalA activity and show a number of well-recognized clinical features, such as angiokeratomas, hypohidrosis, acroparesthesias, transient ischemic attacks and stroke, heart disorders, and progressive renal failure. Enzyme replacement therapy using recombinant agalsidase α or β is currently recommended. We treated a 26-year-old patient with the classical type of Fabry disease by the administration of recombinant human α-GalA for 1 year and evaluated the effects by skin biopsy and changes in symptoms. As a result, accumulation of GL-3 on the vascular endothelial cells, vascular smooth muscle cells and perineurium was reduced or disappeared, but symptoms such as increase in angiokeratomas, pain, and hypohidrosis, did not change.
