Tay-Sachs Disease, AB Variant
Synonyms
AB Variant GM2 Gangliosidosis
AB Variant GM2-Gangliosidoses
AB Variant GM2-Gangliosidosis
AB Variant Gangliosidosis GM2
Activator Deficiencies, GM2
Activator Deficiencies, Hexosaminidase
Activator Deficiency GM2 Gangliosidosis
Activator Deficiency, GM2
Activator Deficiency, Hexosaminidase
Activator Deficient Tay Sachs Disease
Activator-Deficient Tay-Sachs Disease
Activator-Deficient Tay-Sachs Diseases
Deficiencies, GM2 Activator
Deficiencies, Hexosaminidase Activator
Deficiency Disease, GM2 Protein Activator
Deficiency, GM2 Activator
Deficiency, Hexosaminidase Activator
Disease, Activator-Deficient Tay-Sachs
Diseases, Activator-Deficient Tay-Sachs
GM2 Activator Deficiencies
GM2 Activator Deficiency
GM2 Activator Deficiency Disease
GM2 Gangliosidosis, AB Variant
GM2 Gangliosidosis, Type AB
GM2 Protein Activator Deficiency Disease
GM2-Gangliosidoses, AB Variant
GM2-Gangliosidosis, AB Variant
Gangliosidosis GM2, AB Variant
Gangliosidosis GM2, Type AB
Hexosaminidase Activator Deficiencies
Hexosaminidase Activator Deficiency
Hexosaminidase Activator Protein Deficiency Disease
Tay Sachs Disease, AB Variant
Tay-Sachs Disease, Activator-Deficient
Tay-Sachs Diseases, Activator-Deficient
Variant GM2-Gangliosidoses, AB
Variant GM2-Gangliosidosis, AB
A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.
See Also