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Sandhoff disease is caused by mutations in the HEXB gene.[1] These mutations cause a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body.[2] Sandhoff disease is inherited in an autosomal recessive manner.[1] Last updated: 10/19/2011 Is there a cure for Sandhoff disease?
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