Tay-Sachs Disease, AB Variant

Medical Dictionary -> Tay-Sachs Disease, AB Variant

Search:

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.