Generalized gangliosidosis

Figure 1. Hypothetical mechanism for the selective assimilation of bovine testicular fi-galactosidase by generalized gangliosidosis fibroblasts...

As expected, the assimilation of horseradish peroxidase by generalized gangliosidosis fibroblasts was found to be a linear function of the concentration of the enzyme in the growth medium (Figure 4). 

Figure 3. Effect of the concentration of ff-galactosidase in the medium on the rate of assimilation of ff-galactosidase by generalized gangliosidosis fibroblasts. The different symbols represent experiments performed at different times using the same enzyme preparation and fibroblast cell strain. The specific activity of the enzyme was approximately 4000 units/mg protein. One unit of enzyme is that amount which catalyzes the hydrolysis of 1 nmole p-nitrophenyl ff-galactopyrano-side per minute at pH 4.3 and 37° (18,).

Figure 4. Effect of the concentration of horseradish peroxidase on the rate of assimilation of this enzyme by generalized gangliosidosis fibroblasts. The specific activity of the enzyme was approximately 3000 units/mg protein.

Figure 9.20 Degradation of sphingolipids. Lipid storage diseases are indicated by brackets as follows TS, Tay-Sachs ML, metachromatic leukodystrophy GG, generalized gangliosidosis G, Gaucher s disease NP, Niemann-Pick disease K, Krabbe s disease F, Fabry s disease. The sulfate residue on galactocerebroside is located on position 3 of the galactose residue. Note the sequential nature of the process if one step cannot take place, all subsequent steps cannot take place, either.

Generalized gangliosidosis Mental retardation, liver enlargement, skeletal deformities, about 50% with red spot in retina Ganglioside GMi j5-Galactosidase... 

Gangliosidosis, or Generalized gangliosidosis, or Type I Gui gangliosidosis, or Neurovisceral lipido-... 

Synthesis of Gmi and Gm2 is deficient, and Gms accumulates in brain and liver. Qinically similar to generalized gangliosidosis. Death in first year. 

The substances stored in liver are not likely to be identical to those stored in brain. Wolfe et al [210] have reported the accumulation of a glycoprotein probably of erythrocyte origin in liver of patients with generalized gangliosidosis. 

Okada, S., O Brien, J.S. Generalized gangliosidosis Beta-galactosidase deficiency. Science 160, 1002-1004(1968)... 

Bovine testicular P-D-galactosidase was rapidly taken up by the skin fibroblasts of a patient with generalized gangliosidosis. The enzyme, which contains equimolar amounts of D-mannose and 2-amino-2-deoxy-D-glucose, binds strongly to immobilized concanavalin A. The rate of uptake of this p-D-galactosidase by the fibroblasts was drastically reduced after it had been treated with a-D-manno-sidase. 

Some resemblances of generalized gangliosidosis with another glycolipid thesaurismosis, Fabry s disease, angiokeratoma corporis diffusum, have been pointed out. In the latter, however, the evidence from family and linkage data is strongly in favor of X-chromosomal inheritance (Opitz et al. 1965). 

A group of inherited diseases in which there are deficiencies of specific lysosomal hydrolases. The diseases are characterized by the deposition of complex lipids. They include Gaucher s disease, Fabry s disease, Krabbe s disease, Tay-Sachs disease, generalized gangliosidosis, Niemann-Pick disease and metachromatic leukodystrophy. 

Suzuki, K., and Chen, G. C., 1967, Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GMl-gangliosidosis), J. Lipid Res. 8 105-113. 

Suzuki, K., Suzuki, K., and Kamoshita, S., 1969, Chemical pathology of GMl-gangliosidosis (generalized gangliosidosis), J. Neuropathol. Exp. Neurol. 28 25-73. 

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