What is the prevalence of Hunter syndrome?

How many people does Hunter syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is estimated to occur in approximately 1 in every 100,000 to 150,000 male births worldwide. This condition is caused by a deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of certain substances in the body's cells. Hunter syndrome can result in a wide range of symptoms, including developmental delays, skeletal abnormalities, organ damage, and cognitive impairment. Early diagnosis and management are crucial for improving the quality of life for individuals with this condition.

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is estimated to occur in approximately 1 in every 100,000 to 150,000 live births.

Hunter syndrome is caused by a deficiency of the enzyme iduronate-2-sulfatase (IDS), which leads to the accumulation of certain complex carbohydrates called glycosaminoglycans (GAGs) in the body's cells and tissues.

The symptoms of Hunter syndrome can vary widely in severity, but typically include developmental delays, progressive cognitive decline, skeletal abnormalities, organ enlargement, and a range of physical and neurological issues.

Due to its X-linked inheritance pattern, Hunter syndrome primarily affects males, while females may be carriers of the genetic mutation. The condition can be diagnosed through genetic testing and enzyme activity assays.

Although Hunter syndrome is considered rare, it is important to raise awareness about this condition to ensure early diagnosis and appropriate management. Treatment options are limited, but supportive care and enzyme replacement therapy can help alleviate some symptoms and improve quality of life for affected individuals.

Diseasemaps