How is MPS VI diagnosed?
Diagnosis of MPS VI usually starts when the doctor notices a patient has some puzzling symptoms. For instance, it’s unusual for a child to have cloudy corneas, an enlarged liver, or stiff joints—some of the problems that MPS VI may cause. Or a child may have an unusual group of more common problems—such as frequent ear infections, short stature, trouble breathing, and an umbilical hernia.
The doctor may see one or two symptoms as individual problems. It’s only when more and more different symptoms occur that the doctor starts to suspect one thing may be causing all of them. Even then, it may take the doctor a while to target MPS VI, because the disease is so rare.See a list of common symptoms
Referral and testing
Once the doctor does suspect MPS VI, he or she will refer the patient to a specialist in genetic diseases, called a “geneticist.” The geneticist will talk with the family and perform tests. The most important diagnostic test is called an “enzyme assay.” It measures the amount of an enzyme (called ASB) in a person’s skin or blood cells. The enzyme assay confirms an MPS VI diagnosis.
Beginning therapy immediately after diagnosis is important
NAGLAZYME® (galsulfase) provides the enzyme the body needs to break down and get rid of GAG. In timed tests, people who took NAGLAZYME were able to climb more stairs and walk farther than before.Next Page