Mucopolysaccharidosis in children & teens

What is mucopolysaccharidosis?

Mucopolysaccharidosis is a condition caused by one of the mucopolysaccharide (MPS) diseases. These are rare genetic conditions. The genes that cause MPS diseases are inherited from one or both of a child’s parents.

In children with mucopolysaccharidosis, complex carbohydrates (also known as glycosaminoglycans or GAGs) 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).

Mucopolysaccharidosis varies from mild to severe. People with mucopolysaccharidosis usually have shorter lives than other people.

You might see MPS diseases called mucopolysaccharidoses.

Mucopolysaccharidosis signs and symptoms

Newborns with mucopolysaccharidosis might not show any signs or symptoms. Symptoms of mucopolysaccharidosis usually start to show up in the first 5 years of a child’s life. But sometimes mucopolysaccharidosis isn’t diagnosed until late childhood or adulthood.

Early signs and symptoms of mucopolysaccharidosis might include developmental delay, many ear infections, respiratory infections or hernias.

Over time children with mucopolysaccharidosis might develop intellectual disability, stiff joints, small stature, scoliosis, cloudy eyes, heart disease and sleeping problems.

Some children might develop distinctive facial features – for example, a flat nose and a wide mouth with full lips. These facial features are sometimes called coarse facies.

Mucopolysaccharidosis symptoms get worse over time.

What causes mucopolysaccharidosis?

The mucopolysaccharide (MPS) diseases that cause mucopolysaccharidosis are themselves caused by problems with enzymes that help to break down complex carbohydrates. Because the enzymes are either absent or don’t work properly, the complex carbohydrates build up in the body and cause damage.

Different types of MPS diseases are caused by problems in different enzymes.

Diagnosis of mucopolysaccharidosis

If doctors think a child might have mucopolysaccharidosis, often the first step towards diagnosis is a urine test. Doctors will confirm the diagnosis with a genetic test and/or enzyme tests.

Treatment, therapies and supports for children with mucopolysaccharidosis

There’s no cure for mucopolysaccharidosis.

Mucopolysaccharidosis management and treatment depends on children’s individual symptoms and complications.

Sometimes mucopolysaccharidosis can be treated with a bone marrow transplant or enzyme replacement therapy. This depends on what type of MPS disease is causing the mucopolysaccharidosis.

Treatments aim to improve quality of life and prolong life for children with the condition. For some types of MPS disease, early diagnosis and treatment can prevent symptoms from getting worse.

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

People who can help children with mucopolysaccharidosis

If your child is diagnosed with mucopolysaccharidosis, you and your child might work with some of or all the following health professionals, depending on your child’s symptoms:

If your child has mucopolysaccharidosis, it’s easy to get caught up in looking after them. 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.