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Diseases of Thea-Sachs and Sandhoff
Last reviewed: 23.04.2024
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Diseases of Thea-Sachs and Sandhoff are sphingolipidoses, which are caused by a deficiency of hexosaminidase, leading to severe neurologic manifestations and early death of the child.
Gangliosides are complex sphingolipids that are present in the brain. There are 2 basic forms, GM1 and GM, both can be associated with lysosomal accumulation diseases; There are 4 main types of GM gangliosidosis, each of which can be caused by a large number of different mutations.
[Thea Sucks disease
Deficiency of hexosaminidase A leads to the accumulation of GM in the brain. Type of inheritance is autosomal recessive; The carrier of the most common mutations is up to 1/27 healthy adults from Eastern European (Ashkenazi) Jews, although other mutations are characteristic of some French Canadian and Caiun populations.
Children with Teya-Sachs disease begin to experience a delay in psychomotor development after 6 months of age, they develop pronounced cognitive and motor disorders that lead to convulsions, decreased intelligence, paralysis and death by the age of 5 years. Often there are cherry-red spots on the fundus.
The diagnosis is clinical and can be confirmed by enzyme research. In the absence of effective treatment, therapy focuses on a screening survey of adult people of childbearing age in high-risk populations to identify carrier (by determining enzyme activity and identifying mutations) in conjunction with a geneticist's consultation.
Sandhoff disease
Combined deficiency of hexosaminidase A and B is noted. Clinical manifestations include progressive degeneration of the brain, starting at 6 months, accompanied by blindness, cherry-red spots on the fundus and hyperacostic. This disease is virtually indistinguishable from Tay-Sachs disease through the course, diagnosis and treatment, except that it also has internal organs (hepatomegaly and bone changes) and there are no ethnic associations.
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