Glycogen Storage Disease Clinic

Glycogen storage disease (GSD) is a rare condition in which the body is not able to properly store or break down glycogen, a form of sugar or glucose. GSD may affect the liver, muscles and other areas of the body, depending on the form of GSD.

To meet the unique endocrine needs of babies and children with GSD, the Division of Endocrinology and Diabetes has created a Glycogen Storage Disease (GSD) Clinic. The goal of the GSD Clinic is to provide expert care to children with GSD types O, Ia, Ib, III, VI and IX. Children with these types of GSD experience hypoglycemia (low blood sugar) as one of the manifestations of the disease. The GSD clinic consists of specialists in endocrinology and gastroenterology, as well as nutritionists, geneticists, psychologists and social workers.

The GSD team works collaboratively with other specialists, including gastroenterology, nephrology, hematology and cardiology, to ensure that comprehensive GSD care is provided.

Children who have other types of GSD are seen in CHOP’s Lysosomal Storage Disease Center, which is within the Metabolic Disease Program.

What to expect during your child’s appointment

Our clinic is located within Endocrinology on the seventh floor of the Buerger Center for Advanced Pediatric Care, at 3500 Civic Center Blvd., Philadelphia, PA, on the Raymond G. Perelman Campus.
The team will meet with patients and their families to help create the best management plan for keeping children safe and healthy.

Children will be seen every three to six months by pediatric endocrinologist Diva D. De León-Crutchlow, MD, MSCE, Chief of the Division of Endocrinology and Diabetes, and a nutritionist. Appointments may also involve meetings with a genetic counselor, social worker or psychologist are also accessible through the GSD Clinic.

Blood tests and imaging studies will be ordered before each appointment and reviewed during clinic visits.

Children with GSD need to have their treatment regimen assessed in the hospital every one to two years. These hospital admissions will be arranged during the clinic visit.

When you arrive for your visit, you will check in at the welcome desk in the Buerger Center lobby where you’ll receive a visitor badge. We encourage you to arrive at least 15 minutes prior to your scheduled appointment time to allow enough time to park and get checked in.

You’ll be directed to the seventh floor, where you will check in with the medical team at a self-check-in kiosk or one of our patient service representatives.

Once escorted to an exam room, you will not need to move around — all the specialists planned as part of your appointment will come to you.

If you check your child’s blood sugars at home please bring their glucometer to clinic.

Please bring any referrals.

New patients and follow-up appointments

To schedule a new or follow up appointment, call 215-590-3174, press option #1, and request assistance from the hypoglycemia nurse coordinator. You will need to fill out a Welcome Form in MyCHOP, our online patient portal, and send your child’s medical records to the Congenital Hyperinsulinism Center prior to your child’s first appointment. Records can be faxed to 215-590-3053. We will provide more details on the intake process for new patients when you are scheduling your appointment.