Hexosaminidase A and B deficiency disease, also known as GM2 gangliosidosis, is a rare inherited metabolic disorder characterized by the deficiency or malfunctioning of enzymes known as hexosaminidase A and B. These enzymes are responsible for breaking down certain fatty substances called GM2 gangliosides in the body's cells. GM2 gangliosides are found predominantly in the nerve cells of the brain.
The deficiency or malfunctioning of these enzymes leads to the accumulation of GM2 gangliosides, particularly in the brain and other organs, causing progressive damage and dysfunction. Hexosaminidase A and B deficiency disease can present in three distinct forms: Tay-Sachs disease, Sandhoff disease, and the rare form known as AB variant. Each form has its own specific characteristics and severity.
Symptoms of hexosaminidase A and B deficiency disease can vary depending on the form and age of onset, but typically include developmental delays, muscle weakness, loss of motor skills, seizures, hearing loss, intellectual disability, and vision problems. The disease is usually fatal, with a life expectancy ranging from early childhood to early adulthood.
Currently, there is no cure for hexosaminidase A and B deficiency disease. Treatment options focus on managing the symptoms and improving the quality of life for affected individuals. This may involve supportive therapies such as physical and occupational therapy, medications to manage symptoms like seizures, and supportive care for complications that may arise.
Genetic counseling and prenatal testing are important for families at risk of having children with hexosaminidase A and B deficiency disease. Early diagnosis and intervention can help in providing appropriate care and support for affected individuals and their families.
