Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.
We have demonstrated a tenfold (or greater) reduction of the cleavage of galactose from a mucopolysaccharide and a glycoprotein in generalized gangliosidosis, a lysosomal beta-galactosidase deficiency disease. The bony abnormalities in this disease may be due to defective catabolism of mucopolysaccharides in connective tissue.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D005690:Galactose / Q000378:metabolism*; D005696:Galactosidases / Q000378:metabolism*; D006023:Glycoproteins / Q000378:metabolism*; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans
D006023:Glycoproteins; D006025:Glycosaminoglycans; D005696:Galactosidases; D005690:Galactose