title: Identification of glycoprotein storage diseases by lectins: a new diagnostic method.
abstract: The specific diagnosis of glycoprotein storage diseases is made by demonstrating a deficiency in enzyme activity or an elevation of undegraded oligosaccharides in cells or body fluids. Prospective sampling and expensive specialized biochemistry, which is also time consuming, are required for such studies. We used lectin reagents on paraffin-embedded tissue sections to identify the specific sugars in undegraded stored substances. We studied 22 cases of glycoprotein storage diseases and differentiated histochemically between alpha- and beta-mannosidosis, fucosidosis, and sialisidosis. Cells affected with alpha-mannosidosis stained with Concanavalia ensiformis (Con A), Triticum vulgaris (WGA), and succinyl-WGA (S-WGA), while beta-mannosidosis cells did not stain with any of the lectins used. In fucosidosis the affected cells stained with Ulex europeus-I (UEA-I), while sialisidosis-affected cells stained with WGA, and in three cases with Arachis hypogea (PNA). This study indicates that lectin histochemistry provides a reliable specific diagnostic pattern for some glycoprotein storage diseases using a simple and inexpensive method.
mesh_terms: D000328:Adult; D000818:Animals; D001921:Brain / Q000201:enzymology / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002417:Cattle; D002675:Child, Preschool; D003581:Cytodiagnosis; D005260:Female; D005645:Fucosidosis / Q000175:diagnosis; D006651:Histocytochemistry; D006801:Humans; D037102:Lectins; D008361:Mannosidases / Q000032:analysis; D009439:Neuraminidase / Q000172:deficiency; D013154:Spleen / Q000201:enzymology / Q000473:pathology; D005644:alpha-L-Fucosidase / Q000032:analysis; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000175:diagnosis
chemical_list: D037102:Lectins; D008361:Mannosidases; D009439:Neuraminidase; D043323:alpha-Mannosidase; D005644:alpha-L-Fucosidase