The sooner MPS I is diagnosed, the earlier it can be managed

A child with Mucopolysaccharidosis (MPS) type I

Early diagnosis is important. The earlier MPS I is diagnosed, the sooner the disease management can begin. Your doctor might not initially suspect that you or your loved one has MPS I. This may be because some of the early signs and symptoms associated with MPS I look like other illnesses. As MPS I is rare, it is also possible that not all doctors have experience with it. Unfortunately, some patients may have seen several specialists before a diagnosis of MPS I is made.

To confirm a diagnosis, you, your child, or someone you care about may have undergone:

Enzyme testing

Enzyme testing:

Those with MPS I will have lower or absent levels of alpha-L-iduronidase (IDUA) enzyme activity in their blood or skin cells, which a doctor can detect using an enzyme test. Enzyme testing can confirm the MPS I diagnosis.

DNA testing

DNA testing:

The alterations to the IDUA gene that cause MPS I can be detected via a DNA test. DNA testing can confirm the MPS I diagnosis.

Urine testing

Urine testing:

Most individuals with MPS I have GAG levels in their urine that are higher than normal. Urinary GAG testing can be a helpful assessment for MPS I diagnosis and monitoring.

Look out for your loved ones

  • Genetic counseling can help you better understand the inheritance of MPS I. A genetic counselor can give you advice on who out of your family is at risk of having or being a carrier for MPS I, and whether the wider family needs to be told. They can help you and your family to make informed medical and personal decisions based on the risks.
  • Family screening can help your family members quickly find out if they have, or are a carrier for, MPS I.

GAG, glycosaminoglycan; IDUA, α-L-iduronidase; MPS I, mucopolysaccharidosis type I.