| 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) |
|---|---|
| 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) |
| 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) |
| 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) |
| 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) |
| GM2 gangliosidosis |
inherited lipid storage disorder characterized by progressive neuromuscular dysfunction and impaired growth from an early age - due to a defect in the hexosaminidase A and B enzymes resulting in accumulation of galactoside GM2
출처: members.lycos.co.uk/furbabies/glossary2.html
|
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|