| g(m2) ganglioside | <chemical> N-acetylgalactosaminyl-galactosyl-(n-acetylneuraminyl)-glucosyl-ceramide. This is the defective ganglioside manifested in tay-sachs disease and sandhoff disease. Chemical name: Ganglioside GM2 (12 Dec 1998) |
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| GM2 gangliosidosis | One of the hereditary metabolic disorders; several forms exist, including Tay-Sachs disease, Sandhoff's disease, AV variant and adult onset; characterised by accumulation of a specific metabolite, GM2 ganglioside due to deficiency of hexosaminidase A or B, or GM2 activator factor. (05 Mar 2000) |
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| GM2-N-acetyl-beta-D-galactosaminidase | <enzyme> May be an aspect of hexosaminidase a Registry number: EC 3.2.1.- Synonym: gm2-ag-aminidase, ganglioside gm2 hydrolase (26 Jun 1999) |
| infantile GM2 gangliosidosis | <disease> A genetic disorder found in east European Jewish families which can result in early death bu affecting the brain and nerves by causing abnormal lipid metabolism. It is a lysosomal disease in which there is a deficiency of hexosaminidase A, an enzyme that degrades ganglioside GM2. Symptoms appear at age 3-6 months and include blindness, deafness, seizures, paralysis, dementia, decreased muscle tone and growth retardation. There is no known treatment and most children usually die between 2 and 5 years of age. Inheritance: autosomal recessive. (06 Oct 1997) |
| ganglioside | <biochemistry> A glycosphingolipid that contains one or more residues of N acetyl or other neuraminic acid derivatives. Gangliosides are found in highest concentration in cells of the nervous system, where they can constitute as much as 5% of the lipid. (18 Nov 1997) |
| ganglioside galactosyltransferase | <enzyme> Consider also EC 2.4.1.45 Registry number: EC 2.4.1.62 Synonym: udpgalactose-n-acetylgalactosaminyl-(n-acetylneuraminyl)-galactosyl-glucosyl-ceramide galactosyltransferase, udpgalactose-gm2 galactosyltransferase, ganglioside gm1 synthase, udpgalactose-ceramide galactosyltransferase, udp-galactose-gm2 gangliosidebeta-1-3-galactosyltransferase, udpgal-gm2 beta1-3-galactosyltransferase (26 Jun 1999) |
| ganglioside lipidosis | Any disease characterised, 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 Synonym: gangliosialidosis, ganglioside lipidosis. (05 Mar 2000) |
| ganglioside O-acetyltransferase | <enzyme> Gd2 ganglioside is an acceptor for the above enzyme in human melanoma cells Registry number: EC 2.3.1.- (26 Jun 1999) |
| g(m1) ganglioside | <chemical> Galactosyl-n-acetylgalactosaminyl-(n-acetylneuraminyl)- galactosyl-glucosylceramide. Ganglioside present in abnormally large amounts in neurons and in elevated levels in liver and kidney due to a deficiency of beta-galactosidase in the genetically determined disease gm1-gangliosidosis. Chemical name: Ganglioside GM1 (12 Dec 1998) |
| g(m3) ganglioside | N-acetylneuraminyl-galactosyl-glucosylceramide. This ganglioside is present in abnormally large amounts in the brain and liver due to a deficient biosynthetic enzyme, g(m3):udp-n-acetylgalactosaminyltransferase. Deficiency of this enzyme prevents the formation of g(m2) ganglioside from g(m3) ganglioside and is the cause of an anabolic sphingolipidosis. (12 Dec 1998) |
| GM3 ganglioside sialidase | <enzyme> Enzyme deficient in mucolipidosis iv Registry number: EC 3.2.1.- Synonym: haematoside neuraminidase, ganglioside sialidase (26 Jun 1999) |