Tay-Sachs Disease, AB Variant

Tay-Sachs sjukdom, AB-variant

Engelsk definition

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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Tay Sachs Disease, AB Variant Activator Deficiency GM2 Gangliosidosis Gangliosidosis GM2, Type AB GM2 Activator Deficiency Disease GM2 Protein Activator Deficiency Disease AB Variant Gangliosidosis GM2 Hexosaminidase Activator Protein Deficiency Disease Hexosaminidase Activator Deficiency Activator Deficiencies, Hexosaminidase Activator Deficiency, Hexosaminidase Deficiencies, Hexosaminidase Activator Deficiency, Hexosaminidase Activator Hexosaminidase Activator Deficiencies AB Variant GM2-Gangliosidosis AB Variant GM2 Gangliosidosis AB Variant GM2-Gangliosidoses GM2-Gangliosidoses, AB Variant Variant GM2-Gangliosidoses, AB Variant GM2-Gangliosidosis, AB GM2 Activator Deficiency Activator Deficiencies, GM2 Activator Deficiency, GM2 Deficiencies, GM2 Activator Deficiency, GM2 Activator GM2 Activator Deficiencies GM2-Gangliosidosis, AB Variant GM2 Gangliosidosis, AB Variant Activator-Deficient Tay-Sachs Disease Activator Deficient Tay Sachs Disease Activator-Deficient Tay-Sachs Diseases Disease, Activator-Deficient Tay-Sachs Diseases, Activator-Deficient Tay-Sachs Tay-Sachs Disease, Activator-Deficient Tay-Sachs Diseases, Activator-Deficient GM2 Gangliosidosis, Type AB Deficiency Disease, GM2 Protein Activator Gangliosidosis GM2, AB Variant