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 ?
IEMs that can present in the juvenile include sulfatase deficiencies, leukodystrophies, and gangliosidosis (1, 2).
The target applications are two: elaboration of chemical chaperones for the treatment of lysosomal storage disorders (LSDs; Gaucher disease, Fabry disease and gangliosidosis GM1), and the development of compounds with antiproliferative activity in breast cancer.
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.
GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI.
All three children were diagnosed last August with a rare genetic disorder, GM1 gangliosidosis.
It remains to be seen if this method can consistently differentiate GM1 gangliosidosis (OMIM #230500) from mucopolysaccharidosis type IVB (Morquio disease, OMIM #253010) and Sandhoff disease (OMIM #268800) from Tay-Sachs disease due to AB and B1 variants (OMIM #272750 and #272800), as well as different subtypes of Gaucher disease (OMIM #230800, #230900, #230100, and others).
Tifft provided information about gangliosidoses (GANG-lee-oh-sih-DOE-sees), including GM1 gangliosidosis, the diagnosis of the Hall children.
Gaucher disease Glucocerebrosidase Neimann-Pick Sphingomyelinase Tay-Sachs [Beta] hexosaminidase Sandhoff [Beta] hexosaminidase Fabry [Alpha]-galactosidase Wolman Acid esterase Generalized gangliosidosis [Beta]-galactosidase
The representative profile of permethylated FOS from patients with GM1 gangliosidosis (n = 10) had a mass spectrum with major ions at m/z, 1171.
M2] gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
Retrospective diagnosis of GM1 gangliosidosis by use of a newborn-screening card.
Jude researchers successfully treated a laboratory model of an LSD called GM1 - gangliosidosis using bone marrow cells (BMCs) into which scientists inserted the gene for an enzyme that breaks down a fat molecule called GM1.