About Mucopolysaccharidosis Type II

What is Mucopolysaccharidosis Type II?

Mucopolysaccharidosis Type II (MPS II) is a rare, inherited disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme is responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs). Without this enzyme, GAGs accumulate in the body, leading to a wide range of physical and mental health problems. Symptoms of MPS II can include skeletal abnormalities, heart and lung problems, hearing loss, and cognitive impairment. Treatment options for MPS II include enzyme replacement therapy, bone marrow transplantation, and supportive care.

What are the symptoms of Mucopolysaccharidosis Type II?

The symptoms of Mucopolysaccharidosis Type II (also known as Hunter Syndrome) vary from person to person, but may include:

-Delayed development

-Intellectual disability

-Behavioral problems

-Growth delays

-Joint stiffness

-Enlarged head

-Enlarged liver and spleen

-Thickening of the heart valves

-Thickening of the skin

-Coarse facial features

-Hearing loss

-Corneal clouding

-Sleep apnea

-Gastrointestinal problems

-Urinary tract infections

-Breathing problems

What are the causes of Mucopolysaccharidosis Type II?

Mucopolysaccharidosis Type II (MPS II) is caused by a genetic mutation in the IDS gene, which is responsible for producing the enzyme iduronate-2-sulfatase. This enzyme is responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs). Without this enzyme, GAGs accumulate in the body, leading to the symptoms of MPS II.

What are the treatments for Mucopolysaccharidosis Type II?

1. Enzyme Replacement Therapy (ERT): This is the primary treatment for Mucopolysaccharidosis Type II (MPS II). ERT involves the intravenous infusion of a recombinant form of the enzyme iduronate-2-sulfatase (I2S). This enzyme helps to break down the glycosaminoglycans (GAGs) that accumulate in the body due to the lack of the natural enzyme.

2. Bone Marrow Transplantation: This is a more aggressive treatment option for MPS II. It involves replacing the patient’s bone marrow with healthy donor marrow that contains the missing enzyme.

3. Symptomatic Treatment: This involves treating the symptoms of MPS II with medications, physical therapy, and other supportive measures.

4. Gene Therapy: This is a newer

What are the risk factors for Mucopolysaccharidosis Type II?

1. Genetic inheritance: Mucopolysaccharidosis Type II (MPS II) is an inherited disorder caused by a mutation in the IDS gene.

2. Age: MPS II is most commonly diagnosed in children between the ages of 2 and 4.

3. Gender: MPS II is more common in males than females.

4. Ethnicity: MPS II is more common in people of Ashkenazi Jewish descent.

5. Family history: People with a family history of MPS II are at an increased risk of developing the disorder.

Is there a cure/medications for Mucopolysaccharidosis Type II?

Yes, there is a cure for Mucopolysaccharidosis Type II (MPS II). The only available treatment is enzyme replacement therapy (ERT). ERT involves the intravenous infusion of a recombinant form of the enzyme iduronate-2-sulfatase (I2S). This enzyme helps to break down the glycosaminoglycans (GAGs) that accumulate in the body due to the lack of the enzyme in MPS II. ERT has been shown to improve the symptoms of MPS II, including physical and cognitive development, and can even lead to a complete reversal of the disease. Additionally, there are medications available to help manage the symptoms of MPS II, such as pain medications, anti-inflammatory medications, and medications to help with breathing difficulties.