von Gierke disease

Von Gierke disease, or glycogen storage disease type I, is a genetic disorder where the body cannot properly break down stored glycogen into glucose, the energy source. This leads to an accumulation of glycogen in the liver and kidneys, causing low blood sugar levels, especially between meals. Symptoms often include hypoglycemia, enlarged abdomen due to organ enlargement, and growth delays. The condition results from a deficiency of the enzyme glucose-6-phosphatase, which is essential for releasing glucose into the bloodstream. It requires lifelong management with special diets and medications to maintain normal blood sugar levels.