About mucopolysaccharide diseases (MPS) or mucopolysaccharidoses

In children with mucopolysaccharide diseases, complex carbohydrates build up and cause damage to different areas of the body, including the heart, bones, lungs, eyes, skin, connective tissue (tendons and ligaments) and the central nervous system (brain and spinal cord).

Newborns with a mucopolysaccharide disease might not show any signs or symptoms. But affected children might develop intellectual disability or developmental delay, lots of ear infections and respiratory infections, stiff joints, small size, cloudy eyes, hernias, heart disease and sleeping problems.

Mucopolysaccharide diseases (MPS) are progressive. This means the symptoms get worse over time.

You might see mucopolysaccharide diseases (MPS) called mucopolysaccharidoses.

Causes of mucopolysaccharide diseases

Mucopolysaccharide diseases are caused by a problem in a specific enzyme that helps break down complex carbohydrates.

As a result of this enzyme problem, complex carbohydrates build up in the body and cause significant damage.

Diagnosis of mucopolysaccharide diseases

Mucopolysaccharide diseases can be diagnosed with genetic tests.

Support and treatment for children with mucopolysaccharide diseases

There is no permanent cure for mucopolysaccharide diseases. But some types of mucopolysaccharide diseases can be treated with a bone marrow transplant or enzyme replacement therapy.

If your child is diagnosed with a mucopolysaccharide disease, you and your child might work with some or all of the following health professionals: