Gmi gangliosidosis

R. F. G. Frohlich, R. H. Fumeaux, D. J. Mahuran, R. Saf, A. E. Stiitz, M. B. Tropak, J. Wicki, S. G. Withers, and T. M. Wrodnigg, 1-Deoxy-D-galactonojirimycins with dansyl capped N-substitu-ents as P-galactosidase inhibitors and potential probes for GMi gangliosidosis affected cell lines, Carbohydr. Res., 346 (2011) 1592-1598. 

Fig. 29.—Structure1" of Oligosaccharides Isolated from Urine and Tissues of GMi-gangliosidosis Type I.

W18. Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F., and Scriver, C. R., GMi-gangliosidosis without chondrodystrophy or visceromegaly. -Galaotosi-dase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate. Neurology 20, 23-44 (1970). 

The levels of neuraminidase activity in skin fibroblasts from controls and cases of cystic fibrosis have been compared. Re-examination of the cultured jS-D-galactosidase-deficient fibroblasts from a case of Gmi gangliosidosis revealed a severe deficiency in neuraminidase activity using neuraminlactose, fetuin, and the 2-(3-methoxyphenyl) glycoside of A -acetylneuraminic acid as substrates, but normal neuraminidase using Gm, ganglioside as a substrate. 

A novel method for the diagnosis of Gmi gangliosidosis has been reported. Normal tears contain a jS-D-galactosidase which has a pH optimum of 4.2. Tears from patients with Gmi gangliosidosis contain only about 20% of the control value. 

Warner, T.G. O Brien, J.S. Structure Analysis of the Major Oligosaccharides Accumulating in Canine Gmi Gangliosidosis Liver. J. Biol Ghent. 1992, 10, 224-242. 

Reynolds, G. D., Baker, H. J., and Reynolds, R. H., 1978, Enzyme replacement using liposome carriers in feline Gmi gangliosidosis fibroblasts. Nature 275 754. 

Callahan, J. W., and Wolfe, L. S., 1970, Isolation and characterization of keratan sulfates from the liver of a patient with GMi-gangliosidosis type I, Biochim. Biophys. Acta 215 527-543. 

Sloan, H. R., Uhlendorf, B. W., Jacobson, C. B., and Frederickson, D. S., 1971, Galactosidase in tissue culture derived from human skin and bone marrow Enzyme defect in Gmi-gangliosidosis, Pediat. Res. 3 532-537. 

Suzuki, K., 1968, Cerebral GMi-gangliosidosis Chemical pathology of visceral organs. Science 159 1471-1472. 

Suzuki, Y., and Suzuki, K., 1974c, Glycosphingolipid )8-galactosidases. IV. Electrofocusing characterization in Gmi-gangliosidosis,/. Biol. Chem. 249 2113-2117. 

Suzuki, Y., Suzuki, K., and Kamoshita, S., 1969, Chemical pathology of Gmi-gangliosidosis (generalized gangliosidosis), /. Neuropath. Exp. Neurol. 28 25-73. 

Patients with GMi-gangliosidosis have rarefaction of the bones and deformed vertebrae. The neuronal cells in the brain are distended with membranous cytoplasmic bodies which resemble in some degree the inclusions found in nerve cells of Tay-Sachs patients. The spleen and liver are enlarged, and the bone marrow contains foam cells distended with stored material. The glomeruli of the kidneys are also swollen with accumulating substance. 

Based on previous work on Gaucher s disease and Niemann-Pick disease, it was anticipated that the metabolic defect in Gmi-gangliosidosis would be a deficiency of the galactosidase which catalyzes the cleavage of the terminal molecule of galactose of Gmi (Brady, 1966) ... 

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