Gargoylism (mucopolysaccharidosis type II). accumulation of glycosaminoglycans, gangliosides and glycoproteins and activity of some related glycolytic enzymes in liver, spleen and brain

Abstract

For a case of gargoylism (Hunter's disease, mucopolysaccharidosis, type II) the effect of enzyme deficiencies on the sugars of glycosaminoglycans, gangliosides and glycoproteins were compared. To study this the glycoproteins and glycosaminoglycans after lipid extraction, were first solubilized by proteolytic digestion with pronase or papain. Subsequently both classes of compounds were separated on DEAE-Sephadex A-50. Compared to the normal values the glycosaminoglycans were elevated about 100-fold, 10-fold and 3-fold in liver, spleen and brain grey matter, respectively. The gangliosides, as measured by their sialic acid content, were much less affected. In liver, spleen, brain grey and white matter respectively 2.90-, 3.98-, 1.16- and 2.16fold values were obtained. The glycoproteinic sugars were hardly influenced, except for sialic acid from liver and brain white matter (1.87- and 1.92-fold respectively). The lipid content of brain white matter was about half the normal value. Both for grey and white matter the ganglioside pattern was abnormal. In both cases G 1 and G 2 were diminished. In grey matter G 3 a, G 4, G s5 and G 6 were elevated. In white matter G 3 and G 3 a. β-Galactosidase activity was very low in liver (4.7%) and spleen (11.0%) and moderately affected in brain grey (41%) and white (24%) matter. β-Galactosaminidase, β-glucosaminidase and β-glucuronidase activity were enhanced, especially in liver.