Concept information
Terme préférentiel
Tay-Sachs disease
Définition
- 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]
Concept générique
Appartient au groupe
URI
http://data.loterre.fr/ark:/67375/N9J-TS1RF5MG-X
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