GM2 gangliosidosismedical dictionary

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)