Glycogen Storage Diseases

Glycogen is the form of sugar your body stores in your liver and muscles for future energy needs. Glycogen storage diseases are complex genetic conditions in which certain enzymes -- ones involved in creating glycogen or breaking it down into sugar for your body to use -- are missing or don't work correctly. This can result in liver, heart, muscle, and respiratory problems. While there is no cure, our team of internationally recognized experts uses special diets and medical treatments to manage these diseases and their symptoms. We work you or your child to improve growth, development, and health.

Managing the Complications of Glycogen Storage Diseases

There are several different types of glycogen storage disease, the most common of which are:

  • Von Gierke's disease (type I)
  • Pompe disease (type II)
  • Forbes-Cori disease (type III)
  • Andersen’s  disease (type IV)
  • McArdle disease (GSD V)
  • GSD VI
  • GSD IX
  • GSD 0

This class of diseases is most often diagnosed in babies but may be diagnosed in adults as well.

Complications vary depending on the type of glycogen storage disease; however, they can include:

  • Liver problems
  • Low blood sugar
  • Gastrointestinal concerns such as inflammatory bowel disease
  • Growth and developmental delays
  • Lung problems
  • Heart problems

Additional complications can include muscle disease, blood disorders, and kidney problems.

Because so many body systems can be affected, our team closely monitors your or your child’s condition and works with specialists throughout Duke, including experts in cardiology, pulmonology, gastroenterology, endocrinology, and nutrition. Our physical and occupational therapists and speech pathologists may also work with you to develop muscle strength and improve other weaknesses.


We use family history and medical tests to diagnose glycogen storage diseases. Prenatal testing is also available. The following tests may be ordered.


We work with your primary care doctor throughout the year so you or your child can receive care close to home. Typically, people come to Duke once to twice a year for follow-up with our specialists.

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