GM2 gangliosidosis, HEXB-related dog
A lysosomal storage disease in dogs due to a mutation in the HEXB gene. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
MONDO:1010840
gangliosidosis, dog
is_a
gangliosidosis, GM2, type II (Sandhoff or variant 0), dog
related