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Tay-Sachs disease is caused by a deficiency of the enzyme hexosaminidase A, which results in accumulation of the GM2 ganglioside in lysosomes, especially in neurons and retinal cells. This leads to neurological defects and death by age 2-3 years. Symptoms include developmental regression and a cherry red spot in the retina. It is more common in people of Ashkenazi Jewish descent. Niemann-Pick disease types A and B are caused by a sphingomyelinase deficiency, leading to accumulation of sphingolipids in neur
- Author
- Nithin Diwagar
- Language
- EN