| GM2 g., type II |
GM2 g., variant 0 (Sandhoff's disease).
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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|---|---|
| GM2 g., type III |
the juvenile form of GM2 g., variant B.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| GM2 g., variant 0 |
the GM2 gangliosidosis occurring when activity of both hexosaminidase A and B isozymes is decreased or absent, due to a defect in the β chain of the enzyme; it is generally called Sandhoff's disease.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| GM2 g., variant AB |
the GM2 gangliosidosis occurring when a sphingolipid activator protein, SAP-2, necessary for hexosaminidase A and B activity is absent; it is clinically identical to GM2 gangliosidoses, variants B and 0.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| GM2 g., variant B |
the GM2 gangliosidosis occurring when hexosaminidase A activity is decreased or absent, due to a defect in the α chain of the enzyme, but hexosaminidase B activity is retained. Several forms exist, grouped by age of onset; at least some may be allelic. Tay-Sachs disease (q.v.) is the term usually used to denote the infantile (or type I ) form; juvenile (or type III ), chronic, and adult forms show progressively less neurologic and muscular involvement, greater heterogeneity, and longer survival time with later onset.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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