Type V Glycogen Storage Disease (GSD V) is a rare inherited disorder caused by a deficiency of the enzyme glucose-6-phosphatase, which is responsible for the breakdown of glycogen in the body. This deficiency leads to an accumulation of glycogen in the liver, kidneys, and other organs, resulting in a variety of symptoms including growth retardation, hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), and kidney failure. Treatment typically involves dietary modifications, medications, and enzyme replacement therapy.

The symptoms of Type V Glycogen Storage Disease vary depending on the severity of the condition. Common symptoms include muscle weakness, fatigue, muscle cramps, and exercise intolerance. Other symptoms may include poor growth, enlarged liver, and hypoglycemia. In some cases, individuals may also experience seizures, heart problems, and respiratory issues.

Type V Glycogen Storage Disease is caused by a mutation in the gene encoding the enzyme glucose-6-phosphatase (G6Pase). This enzyme is responsible for the breakdown of glycogen into glucose, and when it is not functioning properly, glycogen accumulates in the body, leading to the symptoms of Type V Glycogen Storage Disease.

The treatments for Type V Glycogen Storage Disease vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and preventing complications. These may include dietary changes, physical activity, and medications. Dietary changes may include reducing the amount of simple carbohydrates in the diet and increasing the amount of complex carbohydrates. Physical activity can help to improve muscle strength and endurance. Medications such as glucosidase inhibitors, glucagon, and insulin may be prescribed to help manage blood sugar levels. In some cases, a liver transplant may be recommended.

1. Inheritance: Type V GSD is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.

2. Age: Type V GSD can affect people of any age, but is most commonly seen in infants and young children.

3. Gender: Type V GSD affects males and females equally.

4. Ethnicity: Type V GSD is more common in people of Ashkenazi Jewish descent.

There is no cure for Type V 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.