GM2 Protein Activator Deficiency Disease

Medical Condition:
GM2 Protein Activator Deficiency Disease

Inherited diseases characterized by the accumulation of G(M2) GANGLIOSIDE in central nervous system lysosomes and variably in other tissues. Subtypes include TAY-SACHS DISEASE and SANDHOFF DISEASE, as well as an AB variant of BETA-N-ACETYLHEXOSAMINIDASE deficiency and an adult onset form of GM2 Gangliosidosis.