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GM1 gangliosidosis |
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gangliosidosis /gan·gli·o·si·do·sis/ (gang″gle-o-si-do´sis) pl. gangliosido´ses any of a group of lysosomal storage diseases marked by accumulation of gangliosides GM1 or GM2 and related glycoconjugates due to deficiency of specific lysosomal hydrolases, and by progressive psychomotor deterioration, usually beginning in infancy or childhood and usually fatal. GM1 gangliosidosis that due to deficiency of lysosomal β-galactosidase activity, with accumulation of ganglioside GM1, glycoproteins, and keratan sulfate. GM2 gangliosidosis that due to deficiency of activity of specific hexosaminidase isozymes, with accumulation of ganglioside GM2 and related glycoconjugates; it occurs as three biochemically distinct variants, including Sandhoff's disease and Tay-Sachs disease. GM1 gangliosidosis see gangliosidosis. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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