About mucopolysaccharide (MPS) diseases or mucopolysaccharidoses

Mucopolysaccharide (MPS) diseases are a group of rare genetic disorders. The genes that cause these diseases are inherited from one or both of a child’s parents.

In children with an MPS disease, 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 an MPS disease might not show any signs or symptoms. Symptoms of MPS diseases usually start to show up in the first five years of a child’s life. But sometimes MPS diseases won’t be diagnosed until later in childhood.

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.

MPS diseases vary from mild to severe. But in all MPS diseases, symptoms get worse over time. Children with MPS diseases typically have shorter lives than other children.

You might see MPS diseases called mucopolysaccharidoses.

Causes of mucopolysaccharide (MPS) diseases

Mucopolysaccharide (MPS) diseases are caused by a problem in a specific enzyme that helps break down complex carbohydrates. Because the enzyme is either absent or doesn’t work properly, the complex carbohydrates build up in the body and cause damage.

Diagnosis of mucopolysaccharide (MPS) diseases

If doctors think a child might have a mucopolysaccharide (MPS) disease, the first step towards diagnosis is a urine test. Doctors will confirm the diagnosis with a genetic test and/or enzyme tests.

Treatment for children with mucopolysaccharide (MPS) diseases

There is no permanent cure for mucopolysaccharide (MPS) diseases.

Management of the condition will depend on what symptoms and complications children have.

Some types of MPS diseases can be treated with a bone marrow transplant or enzyme replacement therapy.

Treatments aim to improve quality of life and prolong life for children with the condition.

The National Disability Insurance Scheme (NDIS) might support your child with an MPS disease, as well as you and your family. Our guide has answers to your questions about the NDIS.

People who can help children with mucopolysaccharide (MPS) diseases

If your child is diagnosed with a mucopolysaccharide (MPS) disease, you and your child might work with a team of some or all of the following health professionals, depending on your child’s range of symptoms:

If your child has an MPS disease, it’s easy to get caught up in looking after her. But it’s important to look after your own wellbeing and get support for yourself too. If you’re physically and mentally well, you’ll be better able to care for your child.