Fabry disease: ultrastructural lectin histochemical analyses of lysosomal deposits

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism r esulting from a deficiency of lysosomal alpha-galactosidase activity. Globo triaosylceramide accumulates predominantly in lysosomes of various tissues. Former studies have clarified the nature of this disease, and the accumula ted materials in the lysosomes have been analyzed using biochemical techniq ues. In the present study, transmission electron microscopy was used to rev eal the fine structure of these lysosomal deposits, and sugar residues in t he lysosomal deposits in Fabry disease were examined by lectin histochemist ry combined with enzyme digestion. This is the first report to describe the lysosomal sugar residues in Fabry disease analyzed using lectin histochemi stry at the ultrastructural level. With these techniques, we were able to d etect alpha-galactosyl, beta-galactosyl and glucosyl sugar residues in the lysosomal deposits. The experimental procedures used in this study have con siderable potential for use in investigations of glycolipid and glycoprotei n storage diseases without the need for complex methodology and expensive m aterials.