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.
Also Known As:
Sandhoff's Disease; Adult Sandhoff Disease; Deficiency Disease, Hexosaminidase A and B; GM2 Gangliosidosis, Type 2; GM2 Gangliosidosis, Type II; GM2-Gangliosidosis, Type II; Gangliosidosis GM2, Type II; Hexosaminidases A And B Deficiency; Infantile Sandhoff Disease; Juvenile Sandhoff Disease; Sandhoff Disease, Adult; Sandhoff Disease, Adult Type; Sandhoff Disease, Infantile; Sandhoff Disease, Infantile Type; Sandhoff Disease, Juvenile; Sandhoff Disease, Juvenile Type; Sandhoff-Jatzkewitz-Pilz Disease; Total Hexosaminidase Deficiency; beta-Hexosaminidase-beta-Subunit Deficiency; Deficiency, Total Hexosaminidase; Deficiency, beta-Hexosaminidase-beta-Subunit; Disease, Sandhoff-Jatzkewitz-Pilz; GM2-Gangliosidoses, Type II; Hexosaminidase Deficiency, Total; Sandhoff Jatzkewitz Pilz Disease; Sandhoffs Disease; Total Hexosaminidase Deficiencies; Type II GM2-Gangliosidoses; Type II GM2-Gangliosidosis; beta Hexosaminidase beta Subunit Deficiency; beta-Hexosaminidase-beta-Subunit Deficiencies; G(M2) Gangliosidosis, Type II; Gangliosidosis G(M2), Type II; Hexosaminidase A and B Deficiency Disease