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Tay-Sachs and Sandhoff diseases.
Last reviewed: 07.07.2025
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Tay-Sachs and Sandhoff diseases are sphingolipidoses caused by hexosaminidase deficiency, leading to severe neurological manifestations and early death of the child.
Gangliosides are complex sphingolipids that are present in the brain. There are 2 main forms, GM1 and GM, both of which may be associated with lysosomal storage diseases; there are 4 main types of GM gangliosidosis, each of which may be caused by a large number of different mutations.
[ Tay-Sachs disease
Hexosaminidase A deficiency results in accumulation of GM in the brain. Inheritance is autosomal recessive; carriage of the most common mutations is estimated at 1/27 healthy adults of Eastern European (Ashkenazi) Jewish descent, although other mutations are common in some French Canadian and Cajun populations.
Children with Tay-Sachs disease begin to show delayed psychomotor development after 6 months of age, and develop severe cognitive and motor impairments that lead to seizures, decreased intelligence, paralysis, and death by age 5. Cherry-red spots on the fundus are common.
Diagnosis is clinical and can be confirmed by enzyme testing. In the absence of effective treatment, therapy focuses on carrier screening of adults of childbearing age in high-risk populations (by enzyme activity and mutation identification) in combination with genetic counseling.
Sandhoff's disease
Combined deficiency of hexosaminidase A and B is noted. Clinical manifestations include progressive brain degeneration beginning at 6 months of age, with blindness, cherry-red spots on the fundus, and hyperacusis. The disease is virtually indistinguishable from Tay-Sachs disease in its course, diagnosis, and treatment, except that it also has visceral involvement (hepatomegaly and bone changes) and lacks ethnic associations.
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