Deficiency of enzyme hexosaminidase, subunit causes -

Tay-Sachs Disease (GM2 Gangliosidosis: Deficiency in Hexosaminidase β Subunit) Gangliosidoses are characterized by the accumulation of gangliosides, principally in the brain, as a result of a deficiency of a catabolic lysosomal enzyme. Depending on the ganglioside involved, these disorders are subclassified into GM1 and GM2 categories. Tay-Sachs disease, by far the most common of all gangliosidoses, is characterized by a mutation in and consequent deficiency of the β subunit of enzyme hexosaminidase A, which is necessary for the degradation of GM2. More than 100 mutations have been described; most affect protein folding or intracellular transport.