Gycogen Storage Disease Causes & Risks

Causes

GSDs are caused by a genetic enzyme defect. It is inherited from both parents.

Normally, enzymes help convert glucose into glycogen for storage. Other enzymes convert the glycogen back to glucose when energy is needed. This happens during activity like exercise. With GSD, some of these enzymes are defective, deficient, or absent.

The abnormal glycogen build up in the liver and/or muscle tissues.

Risk Factors

The main risk factor for GSDs is having a family member with this disease. The risk varies with the type of GSD.

Parents with one child with GSD have a 25% of having another child with GSD. In a few of the GSD types, the risk rises to 50%. In this case only male children are affected.

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