How is MPS I diagnosed?
Certain early signs and symptoms of MPS I are not specific to this particular disease and are common in many children. Since MPS I is a rare disease, doctors will moreover not think of MPS I as soon as diagnosis. Before the correct diagnosis is made, patients have usually consulted several specialists.
Your doctor can come to the diagnosis of MPS I in two ways. One of the first steps is to check for abnormally high concentrations of glycosaminoglycans (GAGs) in a urine sample. The diagnosis of MPS I is definitively confirmed by testing the degree of enzyme activity in a blood. Both tests can be carried out in specialized laboratories.
Family screening
Due to the hereditary nature of MPS I, it is of particular importance to screen the family. One diagnosis of MPS I can bring to light that other brothers or sisters in a family also have the condition. If there is a rapid diagnosis, the disease may be better treated.
A geneticist can provide valuable information and can help you understand how MPS I is inherited in families. He / she can also guide families in diagnostics, medical care and support.
