Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is caused by a deficiency of the enzyme iduronate-2-sulfatase, which leads to the accumulation of certain complex carbohydrates called glycosaminoglycans (GAGs) in the body's cells and tissues.
Individuals with Hunter syndrome may experience a wide range of symptoms that can vary in severity. These may include developmental delays, cognitive impairment, skeletal abnormalities, enlarged organs, hearing loss, and progressive damage to various body systems.
Early diagnosis of Hunter syndrome is crucial for implementing appropriate management strategies. Genetic testing and enzyme activity assays can help confirm the diagnosis.
Currently, there is no cure for Hunter syndrome, but treatment focuses on managing symptoms and improving quality of life. This may involve enzyme replacement therapy (ERT) to replace the missing enzyme, supportive care for specific symptoms, and regular monitoring of organ function.
Living with Hunter syndrome can be challenging, both for the affected individuals and their families. Supportive therapies, educational interventions, and a multidisciplinary approach involving various healthcare professionals can help optimize outcomes and provide necessary support.