Genetic Test
The GLB1 (Beta-galactosidase) gene encodes an enzyme responsible for breaking down specific carbohydrate chains in glycoproteins and glycolipids.
This genetic test targets a specific mutation associated with GM1 gangliosidosis.
Disease Description
Lysosomal storage diseases are a group of disorders caused by the abnormal accumulation of substances within lysosomes.
Lysosomes are intracellular organelles containing enzymes that degrade macromolecules such as proteins, carbohydrates, glycolipids, as well as damaged cell organelles, viruses, and bacteria.
There are approximately 50 different types of lysosomal storage diseases, each varying in symptoms, severity, and genetic causes.
