Glycogen Storage Disease Clinic

Glycogen storage disease (GSD) is a rare metabolic disorder where the body is not able to properly store or break down glycogen, a form of sugar or glucose. GSD affects the liver, muscles and other areas of the body, depending on the subtype.

To meet the special endocrinological needs of babies and children with GSD, the Division of Endocrinology and Diabetes has created the Glycogen Storage Disease Clinic to provide expert care to children with types 0, 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. Children with other types of GSD are seen in CHOP’s Lysosomal Storage Disease Center, which is within the Metabolic Disease Program.

What to expect

Controlling low blood sugar is critical to managing GSD, and the team in the Glycogen Storage Disease Clinic will work with each patient and their family to create a treatment plan that will keep the child safe.

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, a nurse practitioner, a nutritionist and a genetic counselor.

Together, they will instruct families on the dietary requirements, which change as the child grows, as well as specific treatments, such as uncooked cornstarch.

Children will need to have blood work every three to six months to monitor metabolic control (chemistry, complete blood counts, lipids, liver function and others depending on the GSD type), a liver ultrasound once a year and a DEXA bone scan every one to two years.

The clinic team also works collaboratively with divisions of Nephrology (kidney issues), Gastroenterology and Hematology, if the child requires their expertise.

New patients and follow-up appointments

Families who have not been treated at CHOP before are welcome to attend the clinic. To schedule a new patient 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.