Type VII Glycogen Storage Disease, also known as Tarui Disease, is a rare inherited disorder caused by a deficiency of the muscle enzyme phosphofructokinase (PFK). This enzyme is responsible for breaking down glycogen, a form of sugar stored in the muscles, into glucose, which is used for energy. Without PFK, glycogen accumulates in the muscles, leading to muscle weakness and fatigue. Other symptoms may include muscle cramps, exercise intolerance, and an enlarged liver. Treatment typically involves dietary changes and physical therapy.

The symptoms of Type VII Glycogen Storage Disease vary depending on the severity of the condition. Common symptoms include muscle weakness, fatigue, poor growth, and delayed puberty. Other symptoms may include enlarged liver, enlarged spleen, and heart problems.

Type VII Glycogen Storage Disease is caused by mutations in the GBE1 gene, which is responsible for producing an enzyme called 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 this enzyme, resulting in the accumulation of abnormal glycogen molecules in the body.

The primary treatment for Type VII Glycogen Storage Disease is dietary management. This includes a low-glycemic diet, which is high in complex carbohydrates and low in simple sugars, as well as avoiding foods that are high in fructose and sucrose. Additionally, dietary supplements such as carnitine, ribose, and coenzyme Q10 may be recommended to help improve energy levels. Regular exercise is also important to help maintain muscle strength and endurance. In some cases, medications such as glucagon and insulin may be prescribed to help regulate blood sugar levels. Finally, regular monitoring of liver function is important to ensure that the disease is being managed properly.

The risk factors for Type VII Glycogen Storage Disease (GSD VII) include:

1. Inheritance: GSD VII is an autosomal recessive disorder, meaning that it is inherited from both parents.

2. Ethnicity: GSD VII is more common in certain ethnic groups, such as Ashkenazi Jews, French Canadians, and Cajuns.

3. Age: GSD VII is more common in infants and young children.

There is no cure for Type VII Glycogen Storage Disease, 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.