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Hurler syndrome is an inherited condition caused by a faulty gene.
Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. Undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs.
Symptoms most often begin to appear between ages 3 and 8.
Children with Hurler syndrome may have:
The medical name for Hurler syndrome is mucopolysaccharidosis type I (MPS I).
If a doctor diagnosed your child with MPS 1, we want you to know you're not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh is here to help.
To make an appointment for your child or refer a patient for MPS 1 care, contact us by:
Here’s what you can expect when you come to us for a consult.
Your first visit will take from 4 to 6 hours.
Your child will have a thorough exam by our experts of the Neurodevelopment in Rare Disorders Program (NDRD). The doctor will make or confirm a MPS I diagnosis and find out how much the disease has progressed.
Because we work as a team at the center, other doctors and staff might see your child during your visit.
These include specialists in:
Members of your child's care team will talk with you about:
By the end of your visit, you'll have a MPS I care plan tailored to your child's needs. We'll also schedule a follow-up visit.
You'll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit.
Before you leave, please ask us about your child's MPS I, treatment, or anything else on your mind.
We'll call within 2 weeks to review the test results and the next steps for your child's MPS I care.
You can also find your child's test results if you have a MyCHP account — Children's patient portal.
MyCHP lets you manage your child's health online. It's free for kids getting treatment at UPMC Children's Hospital of Pittsburgh and their loved ones.
A child with a rare disease like MPS I affects the whole family. We see each family member as our partner at the CRDT.
The best care happens when we merge our MPS I expertise with your knowledge of your child's needs.
Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.
View Center for Rare Disease Therapy patient stories »
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.