Alternative titles and symbols : Tay-sachs disease, ab variant; Hexosaminidase activator deficiency; Ab variant gm2-gangliosidosis; Gm2 activator deficiency;
Description : The GM2-gangliosidoses are a group of disorders caused by excessive accumulation of
ganglioside GM2 and related glycolipids in the lysosomes, mainly of neuronal cells.
GM2-gangliosidosis AB variant is characterized by normal hexosaminidase A (HEXA; 606869)
and hexosaminidase B (HEXB; 606873) but the inability to form a functional GM2 activator
complex. The clinical and biochemical phenotype of the AB variant is very similar
to that of classic Tay-Sachs disease (see 272800) (Gravel et al., 2001).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the GM2 activator gene (GM2A, 613109.0001);
Laboratory abnormalities : Gm2-ganglioside accumulation in tissues;