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Mitochondrial disorders are hereditary conditions caused by errors in the mitochondria.
The mitochondria are microscopic “power plants” within cells. They create most of the energy the body needs to live and grow.
When the mitochondria are faulty and can't do their job, many organs and systems of the body begin to fail.
Children with mitochondrial disorders can suffer:
If a doctor diagnosed your child with a mitochondrial disorder, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.
To make an appointment for your child or refer a patient for care, contact us by:
Here’s what you can expect when you come to us for a consult.
Dr. Uta Lichter-Konecki, our mitochondrial disease expert, can often see a new patient within 2 to 3 weeks.
Your first visit with Dr. Lichter-Konecki will take about two hours. If your child sees other doctors, the total time for your first visit may be 4 to 6 hours.
Your child will have a complete assessment from Dr. Lichter-Konecki.
She will make or confirm a mitochondrial disorder diagnosis and find out how much the disease has progressed.
Because we work as a team at the center, other experts that might see your child during your visit include:
Members of your child's mitochondrial disorder care team will talk with you about likely next steps, such as:
If surgery might help treat your child's mitochondrial disease, we'll discuss the details. We'll make sure you know what the surgery entails and how you and your child can prepare for it.
By the end of your visit, you will have a mitochondrial disorder care plan tailored to your child’s needs. We'll also schedule a follow-up visit.
Before you leave, please feel free to ask us about your child's mitochondrial disorder diagnosis, treatment, or anything else on your mind.
We'll call you within 2 weeks to discuss the test results and next steps for your child's mitochondrial disorder care.
Genetic testing can sometimes take several months.
You can also find your child's test results if you signed up for myCHP — Children's patient portal.
myCHP lets you manage your child's health online. It's free for patients, parents, and guardians of UPMC Children's Hospital.
When a child has a rare disease like a mitochondrial disorder, it affects the whole family.
At the Center for Rare Disease Therapy, we see each family member as our partners.
The best care approach happens when we merge our mitochondrial disorder expertise with your knowledge of what’s best for your child.
UPMC Children’s Hospital of Pittsburgh — named a certified Mitochondrial Medicine Center — is now part of the new, first-of-its-kind Mitochondrial Care Network (MCN).
The MCN is a joint effort of professional and patient advocacy groups including:
The MCN intends to:
Contact us to make an appointment or learn more about mitochondrial disorders:
Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment with REN001 in Patients with Primary Mitochondrial Myopathy
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.