부산대학교 도서관

Tay-Sachs disease is 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. In particular, nerve cells (neurons) in the brain and spinal cord accumulate excessive levels of ganglioside sphingolipids, leading to serious neurological problems.Tay-Sachs disease manifests predominantly during infancy, with the infantile form being the most common type. There are also juvenile and adult forms of Tay-Sachs disease, but these are rare.Tay-Sachs disease is inherited in an autosomal (non-sex chromosome) recessive manner. Carriers of a single Tay-Sachs mutation are typically normal. The carrier rate is particularly high in the Ashkenazi Jewish population, French-Canadians of southeastern Quebec, and Cajuns of southern Louisiana.There is no cure for Tay-Sachs disease, and treatment is aimed at relieving the specific symptoms that occur.