Article
Article
Tay-Sachs disease
Article By:
Chen, Hongjie Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Last reviewed:February 2022
DOI:https://doi.org/10.1036/1097-8542.679470
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- Tay-Sachs disease, published June 2016:Download PDF
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A rare genetic disorder in which there is a deficiency of hexosaminidase A (a lysosomal enzyme that hydrolyzes GM2 gangliosides). Tay-Sachs disease is a severe and progressive neurodegenerative disease. Because of the deficiency of hexosaminidase A and the subsequent inability to hydrolyze GM2 gangliosides (specific glycosphingolipids), body cells store lipids abnormally and eventually suffer damage. In particular, nerve cells (neurons) in the brain and spinal cord accumulate excessive levels of ganglioside sphingolipids (Fig. 1), leading to progressive neurological problems. There is no cure or specific treatment for Tay-Sachs disease. See also: Brain; Degenerative neural diseases; Enzyme; Lipid; Lysosome; Nerve; Nervous system (vertebrate); Neuron; Sphingolipid; Spinal cord
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