Abstract
Two clinical forms of GMl-gangliosidosis are now recognized (9,15,25). In Type I (generalized gangliosidosis) the disease is apparent at birth or soon after and mental and motor retardation progress rapidly to cause death before two years of age. This is associated with an abnormal facial appearance, prominent hepatosplenomegaly and marked skeletal abnormalities. In Type II (late infantile or juvenile GMl-gangliosidosis), the disease onsets after 6 months and although the psychomotor deterioration is similar to Type I it progresses more slowly, and death can occur anytime between 3 and 10 years. There is little characteristic about the child’s appearance, the liver and spleen are not enlarged unduly and the skeletal abnormalities are minor, although in recent reports they are possibly of diagnostic value. O’Brien has recently reviewed the clinical and biochemical abnormalities in this disease (15). In both types, GMl-ganglioside and its asialo-derivative accumulate in greatly increased amounts in brain and peripheral neurones in intracellular organelles with very similar properties and appearance to the membranous cytoplasmic bodies seen in Tay Sachs disease (19,20). GMl-ganglioside is also present in increased quantities in non-neural tissues (liver, spleen, cultured fibroblasts) in both types but the visceral accumulation is much more marked in the Type I form (3,15,20,25).
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Brady, R. O., Gal, A. E., Bradley, R. M., Martensson, E., Warshaw, A. L. and Laster, L. Enzymatic defect in Fabry’s disease: ceramide trihexosidosis deficiency. New Engl. J. Med. 276, 1163. 1967.
Callahan, J. W. and L. S. Wolfe. Isolation and characterization of keratan sulfates from the liver of a patient with Gla-gangliosidosis Type I. Biochim.Biophys.Acta 215, 527, 1970.
Callahan, J. W., Pinsky, L. and Wolfe, L. S. Gy-gangliosidosis (Type II): Studies on a Fibroblast Cell Strain. Biochem. Med. 4, 295, 1970.
Clarke, J. T. R., Wolfe, L. S. and Perlin, A. S. Evidence for a Terminal a-D-Galactopyranosyl Residue in Galactosylgalactosylglucosylceramide from Human Kidney. J. Biol. Chem. 246, 5563, 1971.
Clarke, J. T. R., Knaack, J., Crawhall, J. C. and Wolfe, L. S. Ceramide trihexosidosis (Fabry’s Disease) without skin lesions. New Engl. J. Med. 284, 233, 1971.
Colley, J. R., Miller, D. L., Hutt, M. S. R., Wallace, H. J. and deWardener, H. E. The renal lesion in angiokeratoma corporis diffusum. Brit. Med. J. 1, 1266, 1958.
Courtois, J. E. and Petek, F., in E. F. Neufeld and V. Ginsburg (Editors), Methods in Enzymology, Vol. VIII, Academic Press, New York, p. 565, 1966.
Dawson, G. and Sweeley, C. C. In vivo Studies on Glycosphingolipid Metabolism in Porcine Blood. J. Biol. Chem. 245, 410, 1970.
Derry, D. M., Fawcett, J. S., Andermann, F. and Wolfe, L. S. Late Infantile Systemic Lipidosis. Neurology 18, 340, 1968.
Hakomori, S-I, Siddiqui, B., Li, Y-T, Li, S-C and Hellerqvist, C. G. Anomeric Structures of Globoside and Ceramide Trihexoside of Human Erythrocytes and Hamster Fibroblasts. J. Biol. Chem. 246, 2271, 1971.
Hirano, S.,Hoffman, P. and Meyer, K. The Structure of Keratosulfate of Bovine Cornea, J. Org, Chem, 26, 5064, 1961.
Hirano, S. and Meyer, K. Enzymatic Degradation of Corneal and Cartilaginous Keratosulfates, Biochem. Biophys. Res. Comm. 44, 1371, 1971.
Jamieson, G. A., Jett, M. and DeBernardo, S. L. The Carbohydrate Sequence of the Glycopeptide Chains of Human Transferrin. J. Biol. Chem. 246, 3686, 1971.
Kint, J. A. Fabry’s disease: alpha galactosidase deficiency. Science 167, 1268, 1970.
O’Brien, J. S., Okada, S., Ho, Mae Wan, Fillerup, D. L., Veath, M. Lois and Adams, K. Ganglioside storage diseases Fed. Proc. 30, 956, 1971.
Pinsky, L., Powell, E. and Callahan, J. Gam-gangliosidosis Types 1 and 2; enzymatic differences in cultured fibroblasts. Nature 228, 1093, 1970.
Severi, F., Magrini, U., Tettamanti, G., Bianchi, E. and Lanzi, G. Infantile Gj-gangliosidosis. Hely, Paed, Acta 26, 192, 1971.
Suzuki, K. Cerebral Gam-gangliosidosis: Chemical Pathology of Visceral Organs. Science 159, 1471, 1968.
Suzuki, K., Suzuki, K. and Chen, G. C. Morphological, Histochemical and Biochemical Studies on a Case of Systemic Late Infantile Lipidosis. J. Neuropath. Exptl. Neurol, 27, 15, 1968.
Suzuki, K., Suzuki, K. and Kamoshita, S. Chemical pathology of Gml-gangliosidosis. J. Neuropath, Exptl, Neurol. 28, 25, 1969.
Sweeley, C. C. and Klionsky, B. Fabry’s disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem. 238, PC3148, 1963.
Sweeley, C. C., Snyder, P. D., Jr., and Griffin, C. E. Chemistry of Glycosphingolipids in Fabry’s Disease. Chem. Phys. Lipids 4, 393, 1970.
Thomas, D. B. and Winzler, R. J. Structure of Glycoproteins of Human Erythrocytes. Biochem J. 124, 55, 1971.
Wallace, H. J. Angiokeratoma corporis diffusum. Brit. J. Dermat. 70, 354, 1958.
Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F. and Scriver, C. R. Gml-gangliosidosis without chondrodystrophy or visceromegaly. Neurology 20, 23, 1970.
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Wolfe, L.S., Clarke, J.T.R., Senior, R.G. (1972). Biochemical Studies on GM1-Gangliosidosis and Ceramide Trihexosidosis. In: Volk, B.W., Aronson, S.M. (eds) Sphingolipids, Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6570-0_26
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DOI: https://doi.org/10.1007/978-1-4757-6570-0_26
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