About Glycogen Storage Disease Type VII

What is Glycogen Storage Disease Type VII?

Glycogen Storage Disease Type VII (GSD VII) is a rare inherited disorder caused by a deficiency of the enzyme phosphofructokinase (PFK). This enzyme is responsible for breaking down glycogen, a form of sugar stored in the body, into glucose, which is used for energy. Without PFK, glycogen accumulates in the body, leading to a variety of symptoms including muscle weakness, fatigue, and low blood sugar. GSD VII is also known as Tarui Disease, after the Japanese physician who first described it in 1965.

What are the symptoms of Glycogen Storage Disease Type VII?

Symptoms of Glycogen Storage Disease Type VII (GSD VII) can vary from person to person, but may include:

- Muscle weakness
- Exercise intolerance
- Delayed motor development
- Poor coordination
- Muscle cramps
- Abnormal gait
- Cardiomyopathy
- Abnormal liver function
- Hypoglycemia
- Growth retardation
- Abnormal fat metabolism
- Abnormal blood clotting

What are the causes of Glycogen Storage Disease Type VII?

Glycogen Storage Disease Type VII (GSD VII) is caused by mutations in the GBE1 gene, which is responsible for producing the enzyme glycogen branching enzyme. This enzyme is responsible for the formation of glycogen molecules, which are used for energy storage in the body. Mutations in the GBE1 gene lead to a deficiency of the enzyme, which results in the accumulation of abnormal glycogen molecules in the body. This accumulation of abnormal glycogen molecules leads to the symptoms of GSD VII.

What are the treatments for Glycogen Storage Disease Type VII?

1. Dietary modifications: A diet low in carbohydrates and high in proteins and fats is recommended for people with glycogen storage disease type VII. This helps to reduce the amount of glycogen that is stored in the body.

2. Enzyme replacement therapy: Enzyme replacement therapy is a treatment option for people with glycogen storage disease type VII. This involves injecting a synthetic form of the enzyme that is missing in the body.

3. Liver transplant: In some cases, a liver transplant may be recommended for people with glycogen storage disease type VII. This is a major surgery and is only recommended in severe cases.

4. Medications: Certain medications may be prescribed to help manage the symptoms of glycogen storage disease type VII. These medications can help to reduce the amount of glycogen that is stored in the body.

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

1. Genetic mutation in the GBE1 gene
2. Family history of Glycogen Storage Disease Type VII
3. Being of Ashkenazi Jewish descent
4. Being male (as it is an X-linked recessive disorder)

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

There is no cure for Glycogen Storage Disease Type VII, but medications can be used to help manage the symptoms. These medications include enzyme replacement therapy, dietary modifications, and medications to help control blood sugar levels.