Sandhoff Disease

**Definition:** An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

**Tree numbers:** - C10.228.140.163.100.435.825.300.300.249 - C16.320.565.189.435.825.300.300.249 - C16.320.565.398.641.803.350.300.700 - C16.320.565.595.554.825.300.300.800 - C18.452.132.100.435.825.300.300.249 - C18.452.584.563.641.803.350.300.700 - C18.452.648.189.435.825.300.300.249 - C18.452.648.398.641.803.350.300.700 - C18.452.648.595.554.825.300.300.800

**Synonyms:** - Deficiency Disease, Hexosaminidase A and B - Gangliosidosis G(M2), Type II - Gangliosidosis GM2, Type II - GM2 Gangliosidosis, Type 2 - GM2 Gangliosidosis, Type II - Hexosaminidase A and B Deficiency Disease - Hexosaminidases A And B Deficiency - Sandhoff's Disease - Sandhoff-Jatzkewitz-Pilz Disease - G(M2) Gangliosidosis, Type II - GM2-Gangliosidosis, Type II