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Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. Children with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues.
Glycogen is the storage form of glucose in our bodies. Glucose is a simple sugar, which is a form of carbohydrate. It is found in many foods and is the main source of energy in our bodies.
The main types of glycogen storage diseases in children are categorized by number and name. They include:
Since glycogen is primarily stored in the liver or muscle tissue, glycogen storage diseases usually affect functioning of the liver, the muscles, or both. The glycogen storage diseases that mainly affect the liver are types I, III, IV, and VI. The glycogen storage diseases that mainly affect muscles are types V and VII. Type II affects nearly all organs, including the heart.
Glycogen storage diseases are caused by a genetic enzyme defect that is inherited from both parents. Normally, enzymes help convert glucose into glycogen for storage. Other enzymes convert the glycogen back to glucose when quick energy is needed, as in exercise. In a person with a glycogen storage diseases, some of these enzymes are defective, deficient, or absent. This causes the buildup of abnormal amounts and types of glycogen in liver and/or muscle tissues.
Since glycogen storage diseases are hereditary, the primary risk factor for is having a family member with this disease.
Glycogen storage disease symptoms in pediatric patients depend on its type. The following is a list of common glycogen storage disease symptoms:
Symptoms of specific types of glycogen storage diseases include:
Glycogen storage disease diagnosis usually occurs in infancy or childhood as a result of the above symptoms. If your child's doctor suspects a glycogen storage diseases, he or she will ask about your child's symptoms and medical history, then perform a physical exam. The doctor will perform tests to rule out or confirm the diagnosis. These tests may include:
Glycogen storage disease treatment will depend on the type of disease and the symptoms. The following general treatment guidelines apply to people who have glycogen storage diseases that affect the liver, or types I, III, IV, and VI. Your child's doctor will develop a treatment regimen based on your child's specific symptoms.
The goal of treatment is to maintain normal blood glucose levels. This may be done with:
This next group of glycogen storage disease treatment guidelines applies to people who have glycogen storage diseases that affect the muscles, or types V and VII. Your child's doctor will develop a treatment regimen based on your child's specific symptoms.
The goal of treatment is to avoid muscle fatigue and/or cramps induced by exercise. This is done by:
There is no way to prevent glycogen storage diseases. However, early treatment can help control the disease once a person has it. If you have a glycogen storage disease or a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
Learn about other Liver Disease States.
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UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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