| gangliosidoses | <disease, neurology> Diseases, such as Tay Sachs, caused by inherited deficiency in enzymes necessary for the breakdown of gangliosides. Cause gross pathological changes in the nervous system, with devastating neurological symptoms. (18 Nov 1997) |
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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) |
| 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) |
Synonyms : GM2 Gangliosidosis, Gangliosidoses GM2, GM2 Gangliosidose, GM2 Gangliosidoses, GM2, Gangliosidoses, Gangliosidose, GM2, Gangliosidosis, GM2
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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