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.
There are several different types of glycogen storage disease, the most common of which are:
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:
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 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.
Living with glycogen storage disease means closely monitoring lab test results, as well as regular tests and screening to diagnose complications when they arise. Severe forms of glycogen storage disease can damage the heart and lungs and cause infections. We work closely with your hometown doctors to follow our treatment plan and so that tests can be performed closer to home.
The effects of some forms of glycogen storage disease can be reversed by maintaining healthy levels of vitamins, minerals, and enzymes for proper growth and development. Depending on your or your child’s condition, special diets may include high-carbohydrate, high-starch meals; frequent meals to maintain blood sugar levels; cornstarch therapy to avoid low blood sugar; or limiting foods the body can’t break down. Sometimes a feeding tube is recommended for continuous feeding.
People with glycogen storage disorders often work with physical and occupational therapists to build strength and promote proper development. These therapies can help you or your child with motor skills for tasks of daily living.
Weakened muscles and developmental delays related to glycogen storage disorders can impact speech. Our speech pathologists use speech therapy to teach children how to make the correct mouth movements to improve their spoken words and language acquisition.
Surgery may be necessary if the liver, heart, or digestive tract is affected by the disease. If serious damage occurs, organ transplants may be recommended.
We use family history and medical tests to diagnose glycogen storage diseases. Prenatal testing is also available. The following tests may be ordered.
May be used to monitor the health of the liver, kidneys, and muscles, and ensure proper blood sugar levels.
Can uncover the presence of disease-causing genetic changes. It is used to check for certain disease markers and hereditary traits.
Tissue samples taken from the liver and muscle are studied to look for disease or abnormal cell function.
Contrast-enhanced ultrasound, CT, and MRI create detailed pictures of the size, structure, and function of organs and vessels.
This nonsurgical alternative to a liver biopsy uses ultrasound to check for liver stiffness from scarring, called liver fibrosis.
