Sandhoff Disease


Adult Sandhoff Disease

Deficiencies, Total Hexosaminidase

Deficiencies, beta-Hexosaminidase-beta-Subunit

Deficiency Disease, Hexosaminidase A and B

Deficiency, Total Hexosaminidase

Deficiency, beta-Hexosaminidase-beta-Subunit

Disease, Sandhoff-Jatzkewitz-Pilz

G(M2) Gangliosidosis, Type II

GM2 Gangliosidosis, Type 2

GM2 Gangliosidosis, Type II

GM2-Gangliosidoses, Type II

GM2-Gangliosidosis, Type II

Gangliosidosis G(M2), Type II

Gangliosidosis GM2, Type II

Hexosaminidase A and B Deficiency Disease

Hexosaminidase Deficiencies, Total

Hexosaminidase Deficiency, Total

Hexosaminidases A And B Deficiency

Infantile Sandhoff Disease

Juvenile Sandhoff Disease

Sandhoff Disease, Adult

Sandhoff Disease, Infantile

Sandhoff Disease, Juvenile

Sandhoff Jatzkewitz Pilz Disease

Sandhoff's Disease

Sandhoff-Jatzkewitz-Pilz Disease

Sandhoffs Disease

Total Hexosaminidase Deficiencies

Total Hexosaminidase Deficiency

Type II GM2-Gangliosidoses

Type II GM2-Gangliosidosis

beta Hexosaminidase beta Subunit Deficiency

beta-Hexosaminidase-beta-Subunit Deficiencies

beta-Hexosaminidase-beta-Subunit Deficiency

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.