Von Gierke Disease
Von Gierke Disease is a genetic disorder caused by a deficiency of the enzyme glucose-6-phosphatase. This enzyme is crucial for converting glycogen into glucose, which the body uses for energy. As a result, individuals with this condition cannot properly regulate blood sugar levels, leading to severe hypoglycemia, especially during fasting.
Symptoms of Von Gierke Disease often include enlarged liver, growth delays, and increased fat deposits. The condition is typically diagnosed in infancy or early childhood. Treatment focuses on managing symptoms and maintaining normal blood sugar levels through dietary changes and, in some cases, medications.