Concept information
Preferred term
Tay-Sachs disease
Definition
- Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a fatal genetic lipid storage disorder where harmful quantities of the fatty substance ganglioside GM2 build up in tissues and nerve cells in the brain. This is from insufficient activity of the enzyme beta-hexosaminidase A which catalyzes (speeds up) the breakdown of acidic fatty materials or gangliosides. [Source: Encyclopedia of Global Health; Tay-Sachs Disease]
Broader concept
Belongs to group
URI
http://data.loterre.fr/ark:/67375/N9J-TS1RF5MG-X
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