An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of and . Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from .
G(M2)-Gangliosidose, Typ II /
Hexoaminidase A und B-Mangelkrankheit /
Gangliosidose-G(M2)-, Typ II /
GANGLIOSIDOSE GM 02 TYP II /