Deficiency of hexosaminidase, causing accumulation of GM2 gangliosides in lysosomes; characterized by loss of motor skills and macular cherry-red spot on slitlamp examination. Incidence is increased in Ashkenazi Jews.
InsideSurgery Medical Information Blog
Details of surgical procedures, pathophysiology, signs and symptoms, and treatment of medical diseases,medical and surgical eponyms, and surgeons and surgery in the news