Skin punch biopsies of six children suffering from infantile or late onset Tay-Sachs disease, juvenile Sandhoff disease, or GM gangliosidosis type I, contained axons which, when viewed with the electron microscope, were distended by large amorphous black deposits. These are nonspecific residual bodies. Their large numbers indicate severe disturbance of the nerve cell and may be part of the dyin...

BACKGROUND By late 1993, the genes for cystic fibrosis and Gaucher disease and the mutations common among Ashkenazi Jews had been identified. In response to these advances, heterozygote screening for cystic fibrosis and Gaucher disease was added to the more than 20-year-old Tay-Sachs disease screening program at New York University Medical Center, New York, NY. OBJECTIVE To review the outcome...

BACKGROUND Introduction: GM2 is a type of ganglioside. It is associated with GM2 gangliosidoses such as Tay-Sachs disease.

In serum there are two classes of hexosaminidase. One of these is heat-labile and is inactive in children with Tay-Sachs disease. Serum from heterozygotes for Tay-Sachs disease has half the normal activity of the heat-labile enzyme. The heat-labile enzyme can be inactivated by heating serum diluted in buffer for 5 mm at 60 #{176}C. We have used this property to develop a reliable, fully automat...