Hexosaminidase Activator Protein Deficiency Disease, also known as GM2 gangliosidosis variant AB, is a rare genetic disorder characterized by the deficiency of a specific protein called hexosaminidase activator protein (GM2AP). This autosomal recessive condition inhibits the proper functioning of the enzyme beta-hexosaminidase A (HexA), which is responsible for breaking down a fatty substance called GM2 ganglioside.
Individuals affected by Hexosaminidase Activator Protein Deficiency Disease usually present with symptoms during infancy or early childhood. The accumulation of GM2 ganglioside in various tissues, especially the brain and nervous system, leads to progressive and severe neurodegenerative symptoms. These symptoms often include developmental regression, muscle weakness, decreased muscle tone, seizures, and intellectual disability. As the disease progresses, patients may also develop vision impairment, difficulty swallowing, and problems with motor skills.
The diagnosis of Hexosaminidase Activator Protein Deficiency Disease is confirmed through beta-hexosaminidase enzyme assay to measure the activity levels of HexA. Genetic testing can also be performed to detect mutations in the HEXA or GM2AP gene, providing further confirmation.
Unfortunately, there is currently no known cure for Hexosaminidase Activator Protein Deficiency Disease. Treatment primarily focuses on symptom management and supportive care to improve the quality of life for affected individuals. Physical therapy, occupational therapy, and speech therapy may be utilized to maximize function and mobility. Additionally, medications may be prescribed to alleviate specific symptoms such as seizures or muscle stiffness.
Overall, Hexosaminidase Activator Protein Deficiency Disease is a rare genetic disorder that leads to the progressive degeneration of the nervous system due to the deficiency of hex
