Tay-Sachs Disease

**Definition:** An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.

**Tree numbers:** - C10.228.140.163.100.435.825.300.300.500 - C16.320.565.189.435.825.300.300.500 - C16.320.565.398.641.803.350.300.850 - C16.320.565.595.554.825.300.300.840 - C18.452.132.100.435.825.300.300.500 - C18.452.584.563.641.803.350.300.850 - C18.452.648.189.435.825.300.300.500 - C18.452.648.398.641.803.350.300.850 - C18.452.648.595.554.825.300.300.840

**Synonyms:** - Gangliosidosis G(M2), Type I - Gangliosidosis GM2, Type I - GM2 Gangliosidosis, Type I - Hexosaminidase A Deficiency Disease - Deficiency Disease Hexosaminidase A - Tay-Sachs Disease, B Variant - GM2 Gangliosidosis, B Variant - Gangliosidosis GM2, B Variant - GM2 Gangliosidosis, Type 1 - B Variant GM2 Gangliosidosis - Gangliosidosis GM2 , Type 1 - Sphingolipidosis, Tay-Sachs - B Variant GM2-Gangliosidosis - G(M2) Gangliosidosis, Type I - GM2-Gangliosidosis, Type I