gangliosidosis

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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.

gan·gli·o·si·do·sis

(gang'glē-ō-si-dō'sis),
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.

gangliosidosis

(găng′glē-ō-sī-dō′sĭs)
n.
Any of a group of lysosomal storage diseases characterized by the abnormal accumulation of gangliosides in the tissues, especially within the nervous system.

gan·gli·o·si·do·sis

(gang'glē-ō-si-dō'sis)
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.

gangliosidosis

A 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.

gangliosidosis

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.

GM1 gangliosidosis
a defect of β-galactosidase which causes accumulation of galactoside GM1. Identified in Friesian cattle, dogs and cats.
GM2 gangliosidosis
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.
References in periodicals archive ?
Pre-clinical studies of ERT for GM2 gangliosidoses have been conducted using a recombinant modified Hex-B produced in Chinese Hamster Ovary (CHO) cells, which allowed in-vitro GM2 ganglioside storage reduction and in the parenchyma of intracerebroventricularly injected mice [5].
pastoris in the development of an ERT for GM2 Gangliosidoses.
Therapeutic Potential of Intracerebroventricular Replacement of Modified Human B-Hexosaminidase B for GM2 gangliosidoses, Molecular Therapy, 19 1017-1024, 2011.
The rest of cases belonged to the third category with involvement of both gray and white matter as in one case of Canavan's and one case of Alexander's disease, two cases of Gangliosidoses, one case of Glutaric aciduria and thirteen cases of Leigh's disease.
Third group of disorders involve both gray and white matter includes Mucopolysaccharidoses, Gangliosidoses, Canavan's disease, Alexander disease and Mitochondrial disorders like Leigh's disease and Glutaric aciduria.
2] gangliosidoses, neutral glycosphingolipidoses, glycoproteinoses, mucolipidoses, leukodystrophies, glycogen storage diseases, disorders of neutral lipids, and disorders of protein transport or trafficking (22, 23).
2] gangliosidoses, such as Sandhoff 's disease, and may be useful in determining whether to perform more specific investigations in infants suspected of having a neurodegenerative disease.
Tifft provided information about gangliosidoses (GANG-lee-oh-sih-DOE-sees), including GM1 gangliosidosis, the diagnosis of the Hall children.
Tifft, MD, PhD, FAAP, FACMG {CT}: In order to describe gangliosidoses, you really need to describe what a lysosomal storage disease is, because gangliosidoses are one of approximately 40 to 50 different lysosomal storage diseases.
18) Clinical phenotypes similar to ALS have been found in some human GM2 gangliosidoses where GM2 accumulates in motor neurons.
M2] gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the [alpha]-subunit of R-hexosaminidase.
Until a few years ago, the almost exclusive clinical application of the assay of Hex isoenzymes was the biochemical diagnosis of gangliosidoses [G.