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.
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.