Mucopolysaccharidosis II

What is Mucopolysaccharidosis II (MPS II)?

Mucopolysaccharidosis II (MPS II) is a rare, genetic disorder that reduces the body’s ability to produce or process lysosomal enzymes which are needed for cells to break down materials in the body like broken down food particles or other cellular elements.

MPS II is caused by mutations in the IDS gene and primarily affects males. It is a progressive condition that begins in childhood and can lead to progressive joint and organ damage, potentially leading to life-threatening complications.

Signs & Symptoms of MPS II

Common signs and symptoms associated with MPS II include:

  • Cognitive delays
  • Developmental delays
  • Intellectual disability
  • Joint stiffness
  • Carpal tunnel syndrome
  • Deafness
  • Chronic airway infections
  • Respiratory failure
  • Heart valve disease
  • Corneal clouding
  • Enlargement of the liver and spleen
  • Unexpected weight gain
  • Bone deformities

Diagnosis & Treatment

MPS II is usually diagnosed through genetic testing. Treatment for MPS II typically involves enzyme replacement therapy to help break down cellular debris and reduce the accumulation of the material in the body. Other treatments may include physical therapy, occupational therapy, and speech therapy. However, as the condition is progressive, control of symptoms is the primary focus of treatment.

Living with MPS II

Having a child with MPS II can be challenging for parents. However, early diagnosis and treatment of MPS II can help the child manage the symptoms and have a better quality of life.

Parents of a child with MPS II should seek out resources and support, both in the community and online, to help them adjust to the diagnosis. A number of organizations and support groups exist to help support families with MPS II, such as the National MPS Society and the MPS II International Research Fund.