What is GM1 Gangliosidosis

GM1 Gangliosidosis is a rare genetic disorder that affects the body's ability to break down a specific type of fat called gangliosides. Gangliosides are found in the nerve cells of the brain and other tissues. This condition is caused by a deficiency of an enzyme called beta-galactosidase, which is responsible for breaking down gangliosides.

As a result of this enzyme deficiency, gangliosides accumulate in the cells, leading to progressive damage in various organs and tissues, particularly the brain and nervous system. Symptoms of GM1 Gangliosidosis typically appear in early infancy and may include developmental delays, muscle weakness, seizures, impaired vision and hearing, and intellectual disability.

GM1 Gangliosidosis is classified into three types: infantile, juvenile, and adult-onset, each with varying severity and age of onset. Unfortunately, there is currently no cure for GM1 Gangliosidosis, and treatment focuses on managing symptoms and providing supportive care to improve quality of life.