Tay-Sachs Disease, AB Variant definition

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
A form of GM2 gangliosidosis resulting from a lack of G(M2) ACTIVATOR PROTEIN function, usually due to genetic mutations. The AB variant designation refers to the elevated levels of HEXOSAMINIDASE A and HEXOSAMINIDASE B proteins that occur in tissues that lack of G(M2) ACTIVATOR PROTEIN.