Glycogen Storage Diseases
Glycogen Storage Diseases (GSDs) are a group of inherited disorders that affect the body's ability to store and use glycogen, a form of carbohydrate that serves as an energy reserve. These diseases occur due to enzyme deficiencies that disrupt the normal breakdown or synthesis of glycogen, leading to its accumulation in various tissues, particularly the liver and muscles.
Symptoms of GSDs can vary widely but often include low blood sugar, muscle weakness, and liver enlargement. Treatment typically focuses on managing symptoms and may involve dietary changes, enzyme replacement therapy, or other supportive measures to help maintain normal energy levels and overall health.