Tay-Sachs Disease

Excerpt

Tay Sachs disease (TSD) is a progressive, lethal neurodegenerative disorder caused by a deficiency of enzyme hexosaminidase-A resulting in the accumulation of GM2 gangliosides. Based on the presentation age, the disease is classified into infantile, juvenile, and adult forms. Early diagnosis of Tay Sachs is clinically challenging because of subtle clinical features and nonspecific biochemical findings. Accurate diagnosis is important both for proper management and to reduce complications associated with the disease.