What Is Pompe Disease?

Inborn Error of Lysosomal Metabolism

Pompe (“Pom-pay”) disease, also known as glycogen storage disease type II, is an inherited condition caused by a faulty gene.

In Pompe disease, an enzyme that helps the body use glucose for energy is missing or not working properly. As a result, glycogen – the stored form of glucose – builds up in organs and tissues.

Pompe Disease Symptoms

Symptoms of classic, infantile-onset Pompe disease may include:

  • Muscle weakness.
  • Developmental delays.
  • An enlarged heart (cardiomegaly and hypertrophic cardiomyopathy).
  • Trouble breathing.
  • Hearing loss.

Symptoms of late-onset Pompe disease may include:

  • Muscle weakness.
  • Loss of balance.
  • Problems breathing, eating, and walking.

An infusion that replaces the missing enzyme is how to treat Pompe disease.

Jerry Vockley, MD, PhD

Chief of Genetic and Genomic Medicine

Dr. Vockley is a global leader in inborn errors of metabolism treatment and research. He’s also a founder of the North American Metabolic Academy.

Your Child's Pompe Disease Consult and Care: What to Expect

If doctors diagnosed your child with Pompe disease, 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.

Here’s what you can expect when you come to us for your child’s care.

What should I expect at my child’s first visit for Pompe disease care?

Your first visit to the CRDT will take from 4 to 6 hours. Your child will receive a complete assessment from one of our doctors.

They’ll make or confirm a Pompe disease diagnosis and find out how much it has progressed.

Because we work as a team at the center, other doctors and staff might see your child during your visit.

These may include a:

  • Brain, spine, and nervous system expert.
  • Heart doctor.
  • Surgeon.
  • Nutritionist.
  • Genetic counselor.
  • Psychologist.
  • Child development specialist.

What are the next steps after my child's Pompe disease visit to the Center for Rare Disease Therapy?

Members of your child's care team will talk with you about:

  • Likely next steps for your child.
  • Pompe disease treatment options.
  • Ways to help your child's quality of life at home.

By the end of your visit, you'll have a Pompe disease 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 Pompe disease, treatment, or anything else.

How long will I need to wait for my child's Pompe disease test results?

We'll call within 2 weeks to discuss the test results and the next steps for your child's Pompe disease 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 care at UPMC Children's Hospital of Pittsburgh and their loved ones.

Partners in Your Child's Pompe Disease Care

A child with a rare disease like Pompe disease affects the whole family. We see you and your loved ones as our partner at the CRDT.

The best care happens when we merge our Pompe disease expertise with your knowledge of your child's needs.

Center for Rare Disease Therapy patient storiesMeet Our Rare Disease Center Patients

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 »

Contact Us About Your Child’s Pompe Disease

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.