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gangliosidosis[gang″gle-o-si-do´sis] (pl. gangliosido´ses)
a lipid storage disorder marked by accumulation of gangliosides in tissues due to an enzyme defect. In generalized gangliosidosis, a hereditary defect in β-galactosidase causes accumulation of ganglioside GM1, resulting in mental retardation, hepatomegaly, skeletal deformities, and, often, a cherry-red spot. In tay-sachs disease, a defect of hexosaminidase A results in accumulation of ganglioside GM2.
Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides, for example, GM2 gangliosidosis, Tay-Sachs disease; caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside.
gangliosidosis/gan·gli·o·si·do·sis/ (gang″gle-o-si-do´sis) pl. gangliosido´ses any of a group of lysosomal storage diseases marked by accumulation of gangliosides GM1 or GM2 and related glycoconjugates due to deficiency of specific lysosomal hydrolases, and by progressive psychomotor deterioration, usually beginning in infancy or childhood and usually fatal.
GM1 gangliosidosis that due to deficiency of lysosomal β-galactosidase activity, with accumulation of ganglioside GM1, glycoproteins, and keratan sulfate.
GM2 gangliosidosis that due to deficiency of activity of specific hexosaminidase isozymes, with accumulation of ganglioside GM2 and related glycoconjugates; it occurs as three biochemically distinct variants, including Sandhoff's disease and Tay-Sachs disease.
Any of a group of lysosomal storage diseases characterized by the abnormal accumulation of gangliosides in the tissues, especially within the nervous system.
Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides (e.g., GM2 gangliosidosis, Tay-Sachs disease), caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside.
gangliosidosisA disorder of GANGLIOSIDE metabolism resulting in accumulation of gangliosides in nerve tissue, especially in the lysosomes. Gangliosidoses are usually due to gene mutation causing an enzyme defect or deficiency. An example is TAY-SACH'S DISEASE.
a group of inherited lipid storage disorders marked by accumulation of gangliosides in tissues due to an enzyme defect. Characterized by progressive neuromuscular dysfunction and impaired growth from an early age.
a defect of β-galactosidase which causes accumulation of galactoside GM1. Identified in Friesian cattle, dogs and cats.
a defect of hexosaminidase A in dogs and pigs, and hexosaminidase A and B in cats. Analogous to the similar diseases in humans, which are called also Sandhoff's disease, Tay-Sachs disease and Bernheimer-Seitelberger disease.