Sandhoff Disease
Synonyms
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.
See Also