| Sandhoff's disease |
A neurodegenerative metabolic disorder that is characterized by symptoms and findings similar to those associated with Tay-Sachs disease as well as possible, moderate enlargement of the liver and spleen (hepatosplenomegaly). Sandhoff's disease is a lysosomal storage disease in which deficiency of the enzymes hexosaminidase A and B results in an abnormal accumulation of certain fats (ie, gangliosides) in particular tissues of the body. ...
출처: www.dbs-stn.org/glossary4.asp
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| Sandhoff's d. |
a type of GM2 gangliosidosis (variant 0, or type II) with clinical features similar to Tay-Sachs disease and other forms of the B variant of GM2 gangliosidosis but distinguished by the presence of stored or excreted N-acetylglucosamine-containing oligosaccharides, occasional organomegaly, and occurrence only in non-Jews. The underlying defect is deficiency of both hexosaminidase A and B isozymes due to a defect in the β chain of the enzyme. It occurs as several forms (infantile, juvenile, and adult), decreasing in severity with increasing age of onset.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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