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Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by mutations in the HEXB gene which disrupts the activity of beta-hexosaminidase A and beta-hexosaminidase B, preventing the breakdown of GM2 ganglioside. A buildup of GM2 ganglioside in the central nervous system leads to the progressive destruction of nerve cells. As the disease progresses, children with Sandhoff disease develop seizures, vision and hearing loss, cherry red spot of the macula, mental retardation, and paralysis. They can also have organomegaly and skeletal abnormalities.
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