Region:

Text Size

  • Smaller
  • Regular
  • Large

How MPS VI is 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, small teeth, 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.3

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 do many tests. Two tests are very important to the diagnosis of MPS VI. This first test that is usually performed is a urine test that measures the amount or type of GAG in the urine. Since there are different types of MPS problems, another test is done to figure out which one it is. This second test, called an “enzyme assay,” will measure the amount of an enzyme (called ASB) in a person’s skin or blood cells. The enzyme assay confirms an MPS VI diagnosis.2

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.1

Common symptoms of MPS VI2-6

Common symptoms of MPS VI

 Next: About NAGLAZYME

References

  1. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120:405-418.
  1. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144(5 Suppl):S3–S14.
  1. Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A. 2005;134:144–150.
  1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. New York, NY: McGraw-Hill; 2001:3421–3452. vol.
  1. Smith KS, Hallett KB, Hall RK, Wardrop RW, Firth N. Mucopolysaccharidosis: MPS VI and associated delayed tooth eruption. Int J Oral Maxillofac Surg. 1995;24:176–180.