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Tay-Sachs disease

Pronunciation: ta saks

Definition: a lysosomal storage disease, resulting from hexosaminidase A deficiency. The monosialoganglioside is stored in central and peripheral neuronal cells. Infants present with hyperacusis and irritability, hypotonia, and failure to develop motor skills. Blindness with macular cherry red spots and seizures are evident in the first year. Death occurs within a few years. Autosomal-recessive transmission; found primarily in Jewish people.

Synonym(s): infantile GM2 gangliosidosis

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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