GM2 Gangliosidosis
GM2 Gangliosidosis is a rare genetic disorder caused by the deficiency of specific enzymes needed to break down certain fats called gangliosides. This leads to the accumulation of these fats in the brain and other tissues, resulting in progressive neurological decline. Symptoms often appear in infancy or early childhood and may include developmental delays, seizures, and loss of motor skills.
There are several types of GM2 Gangliosidosis, including Tay-Sachs disease and Sandhoff disease, each caused by mutations in different genes. Diagnosis typically involves genetic testing and enzyme activity assays. Unfortunately, there is currently no cure, and treatment focuses on managing symptoms and providing supportive care.