Tay-Sachs Disease, AB Variant

**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.

**Tree numbers:** - C10.228.140.163.100.435.825.300.300.750 - C16.320.565.189.435.825.300.300.750 - C16.320.565.398.641.803.350.300.925 - C16.320.565.595.554.825.300.300.920 - C18.452.132.100.435.825.300.300.750 - C18.452.584.563.641.803.350.300.925 - C18.452.648.189.435.825.300.300.750 - C18.452.648.398.641.803.350.300.925 - C18.452.648.595.554.825.300.300.920

**Synonyms:** - Hexosaminidase Activator Deficiency - AB Variant GM2-Gangliosidosis - GM2 Activator Deficiency - GM2-Gangliosidosis, AB Variant - Activator-Deficient Tay-Sachs Disease - GM2 Gangliosidosis, Type AB - Activator Deficiency GM2 Gangliosidosis - Deficiency Disease, GM2 Protein Activator - Gangliosidosis GM2, AB Variant - Gangliosidosis GM2, Type AB - GM2 Activator Deficiency Disease - GM2 Protein Activator Deficiency Disease - Hexosaminidase Activator Protein Deficiency Disease - AB Variant Gangliosidosis GM2