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Up to: Inherited neurodegenerative disorder · Gangliosidosis
GM2 gangliosidosis
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
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Sandhoff disease 13 trials Sub-types →
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Tay-Sachs disease 13 trials Sub-types →
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Tay-Sachs disease AB variant 0 trials