Genetic Test
GLB1 (Galactosidase beta 1) encodes beta-galactosidase-1, an enzyme that breaks down certain types of carbohydrates. This test targets a single gene variant associated with GM1 gangliosidosis.
Disease Description
Gangliosidosis is a genetic disorder caused by the accumulation of gangliosides—a type of molecule composed of sugar and lipid—as well as certain polysaccharides and glycolipids within cells. Gangliosidosis is classified as either GM1 or GM2. GM1 gangliosidosis is caused by mutations in the GLB1 gene, which result in reduced activity of the beta-galactosidase-1 enzyme. When this enzyme is deficient, undegraded substances gradually accumulate in cells, progressively destroying the nerve cells in the brain and spinal cord. Enlargement of various organs (organomegaly) and related dysfunctions may also occur.
