title: GM1 gangliosidosis (type 1) in a cat.
abstract: A kitten with clinical and morphological symptoms of a neurovisceral lysosomal-storage disease has been shown to have a marked deficiency of acidic beta-D-galactosidase in the brain, kidney and spleen. Chromatography on concanavalin A-Sepharose and inhibition studies with 2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine, a selective inhibitor of the neutral broad-specificity beta-D-galactosidase, have shown that the residual beta-D-galactosidase at pH 4.0 in the tissues of the affected cat is due to the neutral beta-D-galactosidase and that there is a complete deficiency of the acidic (lysosomal) beta-D-galactosidase. There is marked accumulation in all tissues and excretion in the urine of neutral oligosaccharides. Analysis of these oligosaccharides by fast-atom-bombardment mass spectrometry and g.l.c. suggests that they arise from the incomplete catabolism of N-glycans of glycoproteins. The ganglioside content of all the tissues is elevated, and it has been shown by t.l.c. that the concentration of a ganglioside fraction with a mobility similar to that of GM1 ganglioside is particularly increased. There is also some evidence of accumulation of glycosaminoglycans in the brain. The clinical symptoms, the complete deficiency of acidic beta-D-galactosidase and the storage products in visceral organs all suggest that this is a case of feline GM1-type gangliosidosis comparable with the severe infantile (Type 1) form of the disease in humans.
mesh_terms: D000470:Alkaloids / Q000494:pharmacology; D000818:Animals; D050260:Carbohydrate Metabolism; D002371:Cat Diseases / Q000378:metabolism*; D002415:Cats; D002855:Chromatography, Thin Layer; D005733:Gangliosidoses / Q000201:enzymology / Q000378:metabolism*; D006863:Hydrogen-Ion Concentration; D050113:Imino Furanoses; D008099:Liver / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008353:Mannitol / Q000031:analogs & derivatives; D011759:Pyrrolidines; D014018:Tissue Distribution; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D000470:Alkaloids; D050113:Imino Furanoses; D011759:Pyrrolidines; D008353:Mannitol; C043121:2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine; D001616:beta-Galactosidase