GM2

GM2 gangliosidosis is a type of lysosomal storage disease which is inherited. It is caused by a deficiency in the enzymes needed to break down lipids, specifically a subtype of glycosphingolipids known as gangliosides. The disease is divided into several subtypes, including Tay–Sachs disease, Sandhoff disease, and the AB variant form.

Causes

GM2 gangliosidosis is caused by a deficiency in the enzymes hexosaminidase A and hexosaminidase B. These enzymes are needed to break down a specific type of fat called GM2 ganglioside in the nerve cells. When these enzymes are missing or not working properly, this fat can build up to toxic levels, particularly in the brain and spinal cord.

Symptoms

The symptoms of GM2 gangliosidosis can vary widely depending on the specific subtype of the disease. However, common symptoms across all types include neurodegeneration, muscle weakness, and developmental delay. In severe cases, symptoms may also include seizures, dementia, and loss of motor skills.

Diagnosis

Diagnosis of GM2 gangliosidosis is typically made through a combination of clinical examination, genetic testing, and enzyme analysis. This can help to identify the specific subtype of the disease and guide treatment options.

Treatment

There is currently no cure for GM2 gangliosidosis. Treatment is typically supportive and focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and medications to manage seizures and other symptoms.

See also

• Lysosomal storage disease
• Tay–Sachs disease
• Sandhoff disease

GM2 Resources
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