AB Variant Tay-Sachs Disease
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.
Also Known As:
Tay-Sachs Disease, AB Variant; AB Variant Gangliosidosis GM2; Deficiency Disease, GM2 Protein Activator; GM2 Activator Deficiency Disease; Hexosaminidase Activator Protein Deficiency Disease; Tay Sachs Disease, AB Variant; GM2 Protein Activator Deficiency Disease; Gangliosidosis GM2, AB Variant; Gangliosidosis GM2, Type AB
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Disease Context: Research Results
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to AB Variant Tay-Sachs Disease: