Hunter Syndrome, also known as Mucopolysaccharidosis II (MPS II), is a rare genetic disorder that affects the body's ability to break down long chains of sugar molecules called glycosaminoglycans (GAGs). As a result, GAGs accumulate in the body's tissues, causing a range of symptoms that can vary in severity. There is currently no cure for Hunter Syndrome, but several treatment options are available to manage its symptoms and improve the quality of life of those affected.

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Understanding Hunter Syndrome

What causes Hunter Syndrome?

Hunter Syndrome is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S), which is responsible for breaking down GAGs in the body. Without this enzyme, GAGs accumulate in the tissues and cause damage over time.

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Who is affected by Hunter Syndrome?

Hunter Syndrome is a rare genetic disorder that primarily affects males. It is estimated to occur in approximately 1 in 100,000 to 1 in 170,000 live births. Females can also be carriers of the disease but usually do not experience symptoms.

What are the symptoms of Hunter Syndrome?

The symptoms of Hunter Syndrome can vary widely, depending on the severity of the disease. Some of the most common symptoms include:

  • Coarse facial features
  • Enlarged liver and spleen
  • Joint stiffness and pain
  • Hernias
  • Breathing problems
  • Delayed growth and development
  • Intellectual disability
  • Hearing loss
  • Vision problems

Diagnosing Hunter Syndrome

How is Hunter Syndrome diagnosed?

Hunter Syndrome can be diagnosed through a blood test that measures the activity of the I2S enzyme. If the enzyme activity is low, genetic testing can confirm the diagnosis.

When should someone be tested for Hunter Syndrome?

Hunter Syndrome is a genetic disorder that is usually diagnosed in childhood. However, in some cases, it may not be diagnosed until adolescence or adulthood.

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Treating Hunter Syndrome

What are the goals of Hunter Syndrome treatment?

The goals of Hunter Syndrome treatment are to manage the symptoms of the disease and improve the quality of life of those affected. Treatment options may include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and symptomatic treatment.

What is enzyme replacement therapy (ERT)?

Enzyme replacement therapy (ERT) is a treatment that involves infusing a synthetic form of the missing enzyme (I2S) into the body. This therapy can help reduce the amount of GAGs that accumulate in the tissues and improve symptoms such as joint stiffness, breathing problems, and organ enlargement.

How effective is enzyme replacement therapy?

Enzyme replacement therapy has been shown to improve the quality of life and increase lifespan in people with Hunter Syndrome. However, it may not be effective in treating all symptoms of the disease.

What is hematopoietic stem cell transplantation (HSCT)?

Hematopoietic stem cell transplantation (HSCT) is a treatment that involves replacing the patient's bone marrow with healthy donor bone marrow. The new bone marrow produces healthy cells that can break down GAGs and reduce the accumulation of GAGs in the body.

How effective is hematopoietic stem cell transplantation?

HSCT has been shown to be effective in improving symptoms and slowing the progression of Hunter Syndrome. However, it is a risky procedure that can have serious side effects.

What are some symptomatic treatments for Hunter Syndrome?

Symptomatic treatments for Hunter Syndrome may include pain management, physical therapy, and surgery to address specific symptoms such as hernias or airway obstruction.