Glycogen storage disease

Glycogen Storage Disease (pronunciation: glai-koh-jen stor-ij dih-zeez) is a group of inherited metabolic disorders that affect the processing of glycogen. Glycogen is a complex sugar that is used by the body for energy.

Etymology

The term "Glycogen" comes from the Greek words "glykys" meaning sweet and "genes" meaning forming. "Storage Disease" refers to the body's inability to properly store and use glycogen.

Types

There are several types of Glycogen Storage Disease, each classified by the type and location of the enzyme deficiency. These include:

• Glycogen storage disease type I (Von Gierke disease)
• Glycogen storage disease type II (Pompe disease)
• Glycogen storage disease type III (Cori disease)
• Glycogen storage disease type IV (Andersen disease)
• Glycogen storage disease type V (McArdle disease)

Symptoms

Symptoms of Glycogen Storage Disease can vary greatly depending on the type and severity of the disease. Common symptoms include:

• Fatigue
• Muscle weakness
• Hypoglycemia
• Hepatomegaly

Diagnosis

Diagnosis of Glycogen Storage Disease typically involves a combination of blood tests, genetic testing, and liver biopsy.

Treatment

Treatment for Glycogen Storage Disease is primarily focused on managing symptoms and preventing complications. This may involve dietary changes, medications, and in some cases, surgery.

See Also

• Metabolic disorders
• Inherited disorders
• Glycogen

External links

• Medical encyclopedia article on Glycogen storage disease
• Wikipedia's article - Glycogen storage disease

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