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 sugar 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. There are several types of GSDs, each associated with specific enzyme deficiencies, such as Pompe disease and Von Gierke disease. Early diagnosis and management are crucial for improving quality of life in affected individuals.