Genetic Test
The HEXB (Hexosaminidase Subunit Beta) gene encodes a lysosomal enzyme that catalyzes the degradation of molecules including gangliosides and hexosamines.
This genetic test targets two specific mutations associated with GM2 gangliosidosis.
Disease Description
Lysosomal storage diseases are 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 cellular organelles, viruses, and bacteria.
There are approximately 50 different forms of lysosomal storage diseases, each varying in symptoms, severity, and genetic causes.
GM2 gangliosidosis is a lysosomal storage disorder caused by a deficiency of the enzyme responsible for breaking down GM2 ganglioside, leading to its accumulation in lysosomes.
This results in neurodegeneration due to damage and death of nerve cells and is typically a fatal disease with relatively early onset.
Due to the severity and progression of the disorder, euthanasia is often recommended for humane reasons.
