Hunter Syndrome (Mucopolysaccharidosis Type 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 carbohydrates called glycosaminoglycans (GAGs). Without this enzyme, GAGs accumulate in the body, causing a wide range of physical and mental problems. Symptoms of Hunter Syndrome can include skeletal abnormalities, joint stiffness, enlarged organs, hearing loss, and developmental delays. In severe cases, the disorder can lead to life-threatening complications. Treatment options are limited, but may include enzyme replacement therapy, physical therapy, and dietary modifications.

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

-Delayed development
-Intellectual disability
-Coarse facial features
-Enlarged head
-Enlarged tongue
-Thickening of the skin
-Joint stiffness
-Heart valve problems
-Enlarged liver and spleen
-Breathing problems
-Hearing loss
-Sleep apnea
-Seizures
-Behavioral problems
-Umbilical hernia
-Urine with an unusual odor

Hunter Syndrome (Mucopolysaccharidosis Type II) is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S). This enzyme is responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs). Without I2S, GAGs accumulate in the body, leading to the symptoms of Hunter Syndrome. The deficiency is caused by a mutation in the IDS gene, which is located on the X chromosome.

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

2. Substrate Reduction Therapy (SRT): This therapy involves the use of drugs that reduce the production of GAGs in the body.

3. Bone Marrow Transplantation: This is a more aggressive treatment option that involves replacing the patient's bone marrow with healthy bone marrow from a donor.

4. Dietary Modifications: A low-sugar diet can help to reduce the accumulation of GAGs in the body.

5

1. Genetic: Hunter Syndrome is caused by a mutation in the IDS gene, which is located on the X chromosome.

2. Age: Hunter Syndrome is most commonly diagnosed in males between the ages of 2 and 4.

3. Gender: Hunter Syndrome is much more common in males than females.

4. Family History: Having a family history of Hunter Syndrome increases the risk of developing the condition.

5. Ethnicity: Hunter Syndrome is more common in certain ethnic groups, such as Ashkenazi Jews.

Yes, there is a medication called Elaprase (idursulfase) that is approved to treat Hunter Syndrome (Mucopolysaccharidosis Type II). Elaprase is an enzyme replacement therapy that helps to reduce the buildup of glycosaminoglycans (GAGs) in the body. It is administered intravenously (IV) every two weeks. Other treatments for Hunter Syndrome include physical therapy, occupational therapy, speech therapy, and dietary modifications.