| GM1 gangliosidosis | Three forms exist: infantile, generalised; juvenile; and adult; gangliosidosis characterised by accumulation of a specific monosialoganglioside, GM1; due to deficiency of GM1-beta-galactosidase. Synonym: generalised gangliosidosis. (05 Mar 2000) |
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| infantile generalised GM1 gangliosidosis | One of the hereditary metabolic diseases of infancy; resembles Tay-Sachs disease, except other organ systems (bone, liver, kidney) are affected. Synonym: familial neuroviscerolipidosis, pseudo-Hurler disease, Type 1 GM1 gangliosidosis. (05 Mar 2000) |
| Type 1 GM1 gangliosidosis | One of the hereditary metabolic diseases of infancy; resembles Tay-Sachs disease, except other organ systems (bone, liver, kidney) are affected. Synonym: familial neuroviscerolipidosis, pseudo-Hurler disease, Type 1 GM1 gangliosidosis. (05 Mar 2000) |
| gangliosidosis | 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) |
| gangliosidosis g(m1) | Form of gangliosidosis characterised by accumulation of g(m1) ganglioside and oligosaccharides, and caused by an absence or severe deficiency of beta-galactosidase a. The three phenotypes of g(m1) gangliosidosis are called infantile (generalised), juvenile, and adult (types 1, 2, and 3 respectively), referring to the age at which clinical manifestations appear. (12 Dec 1998) |
| generalised gangliosidosis | Three forms exist: infantile, generalised; juvenile; and adult; gangliosidosis characterised by accumulation of a specific monosialoganglioside, GM1; due to deficiency of GM1-beta-galactosidase. Synonym: generalised gangliosidosis. (05 Mar 2000) |
| 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) |
| 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) |