Dedicated to the holistic, bench-to-bedside approach to diagnosis, management, and treatment of Glycogen Storage Diseases, specializing in all types of Glycogen Storage Disease.

What is Glycogen Storage Disease? 
Glycogen Storage Diseases (GSD) are a group of inherited disorders of metabolism that result in storage of excess glycogen (a form of stored energy for the body) caused by the lack of a particular enzyme needed for releasing glucose (a form of sugar) from glycogen. Glucose is sugar that the body uses for energy. After eating, extra glucose that is not used for energy is stored by the body as glycogen. In periods when the body needs additional energy, typically between eating and during exercise, glucose is released from stored glycogen with the help of certain enzymes. Glycogen is mainly stored in the liver and muscle. Thus, the majority of glycogen storage diseases result in excess glycogen stored primarily in the liver and/or muscles. Because the body is unable to breakdown glycogen when needed, another feature of some types of GSDs, particularly GSDs that mainly affect the liver (such as GSD I, III, VI and IX), can be periods of low blood sugar (hypoglycemia) during fasting.

Muscle symptoms associated with excess stored glycogen occur in various types of GSD, and symptoms are variable. We are learning more about muscle involvement with GSD III and IX. GSD II (Pompe disease) is not typically associated with hypoglycemia, as symptoms primarily affect the muscle. For more information about GSD II and the treatment that was developed at Duke, please visit the Pompe Disease Clinical and Research Program.       

What are the different types of Glycogen Storage Disease?

• Glycogen Storage Disease Type I 
• Glycogen Storage Disease Type II 
• Glycogen Storage Disease Type III 
• Glycogen Storage Disease Type IV
• Glycogen Storage Disease Type V
• Glycogen Storage Disease Type VI 
• Glycogen Storage Disease Type VII
• Glycogen Storage Disease Type IX 
• Glycogen Storage Disease Type 0

How is Glycogen Storage Disease diagnosed?
The Glycogen Storage Disease Laboratory at Duke works with health care professionals to provide testing for patients both within and outside of Duke University Medical Center. For the diagnosis of Glycogen Storage Diseases I, III, VI, and IX, enzyme activity assay and analysis for glycogen content can be assessed by performing a liver biopsy. Muscle biopsy can also test for subtypes of GSD III and GSD IX. Enzyme testing is not appropriate for carrier testing. DNA testing (genetic testing) is available through common mutation testing (for mutations that are more common in certain populations) and/or gene sequencing. DNA testing is appropriate for confirmation of clinical diagnosis, a positive family history, carrier testing, and (if familial mutations are known) prenatal testing. Prenatal testing is available on CVS samples and cultured amniocytes. For information on testing that is specific to each type of GSD, please see Glycogen Storage Disease Laboratory Test Information.

Forms

• Enzyme Test Request Form (blood, liver, and muscle testing)
• DNA Test Request Form (GSDs Ia, Ib, II, IIIb, and V)
• Type III, IV, and IX Sequencing Request Form through Duke Molecular Diagnostics Laboratory

Contact the Glycogen Storage Disease Laboratory for more information:

Biochemical Genetics Laboratory
Glycogen Storage Disease Laboratory
DUHS Clinical Laboratories
801 Capitola Drive, Suite 6
Durham, NC 27713
Tel: 919-549-0445
Fax: 919-549-0709

Treatments

The Duke Glycogen Storage Disease Program follows a systematic and multidisciplinary management and treatment plan for patients with GSDs. We partner with many subspecialties at Duke to give our patients a system of providers familiar with GSD and its treatment. Our physicians and staff proudly serve a broad, international patient population, providing clinical care and consultation to individuals with Glycogen Storage Disease and their attending physicians, worldwide. Treatment is individualized based on a multidisciplinary review of our patient’s symptoms, strengths/limitations, and needs.

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 Physicians and Staff

Medical Genetics Team