About Glycogen Storage Disease Type III

What is Glycogen Storage Disease Type III?

Glycogen Storage Disease Type III (GSD III) is a rare inherited disorder caused by a deficiency of the enzyme glycogen debranching enzyme (GDE). This enzyme is responsible for breaking down glycogen, a form of sugar stored in the body, into glucose, which is used for energy. Without GDE, glycogen accumulates in the liver, muscles, and other tissues, leading to a variety of symptoms including muscle weakness, poor growth, and liver and kidney problems. Treatment for GSD III typically involves dietary changes, physical therapy, and medications to help manage symptoms.

What are the symptoms of Glycogen Storage Disease Type III?

Symptoms of Glycogen Storage Disease Type III (GSD III) can vary depending on the severity of the condition, but may include:

- Muscle weakness
- Exercise intolerance
- Delayed motor development
- Cardiomyopathy
- Liver enlargement
- Hypoglycemia
- Abnormal liver function tests
- Elevated serum creatine kinase
- Elevated serum transaminases
- Elevated serum lactate
- Elevated serum uric acid
- Elevated serum cholesterol
- Elevated serum triglycerides
- Elevated serum lipoprotein (a)
- Abnormal liver histology
- Abnormal muscle histology
- Abnormal electrocardiogram (ECG)
- Abnormal echocardiogram (ECHO)
- Abnormal cardiac MRI
- Abnormal skeletal muscle

What are the causes of Glycogen Storage Disease Type III?

Glycogen Storage Disease Type III (GSD III) is caused by mutations in the GBE1 gene, which is responsible for producing the enzyme glycogen branching enzyme. This enzyme is responsible for breaking down glycogen, a form of stored sugar, into glucose, which is used for energy. Without this enzyme, glycogen accumulates in the body, leading to the symptoms of GSD III.

What are the treatments for Glycogen Storage Disease Type III?

1. Dietary modifications: A low-protein, high-carbohydrate diet is recommended to reduce the amount of protein breakdown and the production of toxic metabolites.

2. Enzyme replacement therapy: This involves the administration of the missing enzyme, which helps to break down glycogen and reduce the buildup of glycogen in the body.

3. Liver transplantation: This is a last resort option for those with severe symptoms.

4. Exercise: Regular exercise can help to reduce the symptoms of GSD Type III.

5. Medications: Certain medications, such as glucagon, can help to reduce the symptoms of GSD Type III.

What are the risk factors for Glycogen Storage Disease Type III?

1. Genetic mutation: Glycogen Storage Disease Type III is caused by a genetic mutation in the GBE1 gene, which is responsible for producing the enzyme glycogen branching enzyme.

2. Family history: Individuals with a family history of Glycogen Storage Disease Type III are at an increased risk of developing the condition.

3. Ethnicity: Glycogen Storage Disease Type III is more common in individuals of Ashkenazi Jewish descent.

Is there a cure/medications for Glycogen Storage Disease Type III?

Yes, there are treatments available for Glycogen Storage Disease Type III. Treatment options include dietary modifications, enzyme replacement therapy, and gene therapy. Dietary modifications involve reducing the amount of carbohydrates in the diet and increasing the amount of proteins and fats. Enzyme replacement therapy involves the administration of an enzyme called glycogen debranching enzyme, which helps break down glycogen in the body. Gene therapy involves introducing a healthy copy of the gene responsible for producing the enzyme into the patient's cells.