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A ganglioside is a molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids (e.g. N-acetylneuraminic acid, NANA) linked on the sugar chain. NeuNAc, an acetylated derivative of the carbohydrate sialic acid, makes the head groups of gangliosides anionic at pH 7, which distinguishes them from globosides .
[35] [24] Brain ganglioside accretion occurs at an accelerated rate in the early years of life, coinciding with the most active period of myelination, axonal outgrowth, and synaptogenesis. [36] [37] Alongside the growth of brain size, total brain ganglioside concentration also increases 3-fold from early fetal development to 5 years of age. [36]
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Mutations in the GM2A gene cause AB variant. The GM2A gene provides instructions for making a protein called the GM2 activator.
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase.The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration.
Antibodies levels correlate with more severe Guillain–Barré syndrome. [6] Levels of anti-GM1 antibodies are especially elevated in patients with prodromal diarrhea . [ 7 ] Titers to GM1 in other diseases (rheumatoid arthritis, primary Sjögren's syndrome and systemic lupus erythematosus) was also elevated. [ 8 ]
Signs and symptoms of GM2-gangliosidosis, AB variant are identical with those of infantile Tay–Sachs disease, except that enzyme assay testing shows normal levels of hexosaminidase A. [2] Infantile Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B. Infants with this disorder typically appear normal until the age ...
GM3 (monosialodihexosylganglioside) is a type of ganglioside. The letter G refers to ganglioside, and M is for monosialic acid as it has only one sialic acid group. The numbering is based on its relative mobility in electrophoresis among other monosialic gangliosides. [1] Its structure can be condensed to NANA-Gal-Glc-ceramide.
The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. Defects in the HEXA gene, however, prevent this degradation, leading to a buildup of toxins in brain and spinal cord cells.