LSDDB

GM2 gangliosidoses

This disease is also called Sandhoff disease. It is caused due to the defective β subunit of Hexosaminidase (HEXA). This causes an accumulation of GM2 gangliosides and its glycolipids in the neurons and viscera which accounts for the pathology of the disease. This disease is characterized by infantile onset, juvenile onset and adult onset forms. The gene responsible for the enzyme subunit is HEXB located at 15q13.3 (Yun and Lee, 2005).

Reference :
Yun, Y.-M. and Lee, S.-N. (2005) ‘A Case Refort of Sandhoff Disease’, Korean Journal of Ophthalmology, 19(1), p. 68. doi: 10.3341/kjo.2005.19.1.68.