Hunter Syndrome Diagnosis Information

Many of the early signs and symptoms of Hunter syndrome are commonly seen in infants and toddlers, so the road to diagnosis often takes time. As a parent and caregiver, it’s important to be an advocate for your child. Educating yourself and providing information to your pediatrician can go a long way toward getting a diagnosis more quickly.

Path to Diagnosis:

  • Symptoms usually appear between 2 and 4 years of age
  • Visible signs and symptoms of Hunter syndrome (MPS II) are usually the first clues
  • Doctors may use laboratory tests to provide additional evidence that an MPS disorder is present and refer you to a medical geneticist for further testing
  • A definitive diagnosis of Hunter syndrome is made by measuring the iduronate-2-sulfatase (I2S) enzyme activity