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Glycogen storage disease (gly·co·gen - stor·age - dis·ease) or GSD is a rare, inherited condition in which the body improperly uses and stores glycogen, one of its main sources of energy.
214-456-8000
Fax: 214-456-8005
469-497-2505
F: 469-497-2511
469-488-7000
Fax: 469-488-7001
469-303-5000
Fax: 214-867-9511
When a child has glycogen storage disease (GSD), it means they have a genetic disorder that changes the way their body uses and stores glycogen.
Normally, glycogen is stored in the liver, where enzymes can break it down into glucose when the body needs more energy. When glycogen is not stored or used properly, or when the enzyme needed to break it down into glucose is missing, the glycogen builds up in the child’s tissues and can cause problems in the liver, muscles and organs.
There are eight types of glycogen storage disease, depending on the specific enzyme that is affected or missing.
The three most common types of the disease are:
Other types include:
The symptoms of glycogen storage disease are similar for the most common types of the disease.
Symptoms include:
Glycogen storage disease is caused by a genetic defect. In order to have glycogen storage disease, a child must inherit the defective gene from both parents.