Mucopolysaccharidosis type 2, severe form (also known as Hunter syndrome) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme is responsible for breaking down certain complex carbohydrates (mucopolysaccharides) in the body. Without this enzyme, these carbohydrates 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, life expectancy is shortened. Treatment options include enzyme replacement therapy, dietary modifications, and physical and occupational therapy.

The symptoms of Mucopolysaccharidosis type 2, severe form, can vary from person to person, but may include:

-Delayed development
-Intellectual disability
-Coarse facial features
-Enlarged liver and spleen
-Heart valve problems
-Joint stiffness
-Corneal clouding
-Hearing loss
-Sleep apnea
-Short stature
-Frequent respiratory infections
-Abnormal gait
-Umbilical hernia
-Kyphosis or scoliosis
-Abnormalities of the urinary tract

Mucopolysaccharidosis type 2, severe form (MPS 2, severe form) 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 glycosaminoglycans, which are long chains of sugar molecules found in the body. Without this enzyme, these molecules accumulate in the body, leading to the symptoms of MPS 2, severe form.

The treatments for Mucopolysaccharidosis type 2, severe form, include enzyme replacement therapy, bone marrow transplantation, and hematopoietic stem cell transplantation. Enzyme replacement therapy involves the intravenous administration of a recombinant form of the deficient enzyme, iduronate-2-sulfatase. Bone marrow transplantation is a procedure in which healthy bone marrow cells are transplanted into the patient to replace the defective cells. Hematopoietic stem cell transplantation is a procedure in which healthy stem cells are transplanted into the patient to replace the defective cells. Other treatments may include physical therapy, occupational therapy, speech therapy, and dietary modifications.

1. Genetic mutation: Mucopolysaccharidosis type 2 (MPS 2) is caused by a genetic mutation in the IDS gene, which is responsible for producing the enzyme iduronate-2-sulfatase.

2. Age: MPS 2 is typically diagnosed in early childhood, usually between the ages of 2 and 4.

3. Gender: MPS 2 is more common in males than females.

4. Family history: MPS 2 is an inherited disorder, so having a family history of the condition increases the risk of developing it.

5. Ethnicity: MPS 2 is more common in certain ethnic groups, such as Ashkenazi Jews and African Americans.

Yes, there is a cure for Mucopolysaccharidosis type 2, severe form. The only available treatment is enzyme replacement therapy (ERT). ERT is a type of treatment that replaces the missing enzyme in the body with a synthetic version. This helps to reduce the symptoms of the disease and improve the quality of life of those affected. Additionally, medications such as non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids may be prescribed to help reduce inflammation and pain.