Glycogen storage disease due to muscle beta-enolase deficiency (GSD-MBD) is a rare inherited disorder caused by a deficiency of the enzyme beta-enolase in muscle cells. This enzyme is necessary for the breakdown of glycogen, a form of stored sugar, into glucose, which is the body's main source of energy. Without enough beta-enolase, glycogen accumulates in the muscles and other tissues, leading to a variety of symptoms including muscle weakness, fatigue, and exercise intolerance.

The symptoms of Glycogen Storage Disease due to muscle beta-enolase deficiency include muscle weakness, exercise intolerance, cramps, myoglobinuria, and rhabdomyolysis. Other symptoms may include hypotonia, delayed motor milestones, and cardiomyopathy.

Glycogen storage disease due to muscle beta-enolase deficiency is caused by mutations in the ENO3 gene. This gene provides instructions for making an enzyme called beta-enolase, which is found in muscle cells. Mutations in the ENO3 gene reduce or eliminate the activity of beta-enolase, which disrupts the breakdown of glycogen into glucose. As a result, glycogen accumulates in muscle cells, leading to the signs and symptoms of this disorder.

1. Dietary therapy: A diet low in carbohydrates and high in proteins and fats is recommended to help manage the symptoms of glycogen storage disease due to muscle beta-enolase deficiency.

2. Enzyme replacement therapy: Enzyme replacement therapy is used to replace the missing enzyme in the body.

3. Physical therapy: Physical therapy can help improve muscle strength and coordination.

4. Medications: Medications such as corticosteroids and diuretics may be prescribed to help manage symptoms.

5. Gene therapy: Gene therapy is a potential treatment option for glycogen storage disease due to muscle beta-enolase deficiency.

1. Inheritance: Glycogen storage disease due to muscle beta-enolase deficiency is an autosomal recessive disorder, meaning that it is inherited from both parents.

2. Ethnicity: This disorder is more common in individuals of Ashkenazi Jewish descent.

3. Age: Symptoms of this disorder typically appear in infancy or early childhood.

4. Gender: This disorder affects males and females equally.

At this time, there is no cure for glycogen storage disease due to muscle beta-enolase deficiency. However, there are medications that can help manage the symptoms of the disease. These medications include enzyme replacement therapy, dietary modifications, and physical therapy. Additionally, some patients may benefit from medications to help control muscle spasms and seizures.