GM1 gangliosidosis is a rare inherited neurodegenerative lysosomal storage disorder caused by mutations in the GLB1 gene—the gene that instructs cells to produce an enzyme called beta-galactosidase.
This enzyme is responsible for the metabolism of a substance called GM1-ganglioside in neurons. When the GLB1 gene is faulty and activity of beta-galactosidase is disrupted, GM1-ganglioside accumulates at toxic levels, causing neurodegeneration associated with severe neurological symptoms. This damage to the nervous system results in delayed development, behavioral disturbances, seizures and a range of other cognitive and physical symptoms. There is currently no approved treatment for GM1 gangliosidosis.