Hepatorenal Glycogen Storage Disease, also known as type I glycogen storage disease or von Gierke disease, is a rare inherited metabolic disorder characterized by the body's inability to break down and store glycogen properly. This condition affects the liver and kidneys, leading to abnormal glycogen accumulation in these organs.
Glycogen is a complex sugar molecule that serves as a stored form of glucose in the body. In individuals with hepatorenal glycogen storage disease, there is a deficiency or dysfunction of the enzyme glucose-6-phosphatase, which is responsible for converting glycogen into glucose. As a result, glycogen builds up in the liver and kidneys.
Symptoms commonly appear during infancy or early childhood and may include enlargement of the liver (hepatomegaly), low blood sugar (hypoglycemia), poor growth and development, and an enlarged abdomen. The buildup of glycogen in the liver can also result in increased levels of lactic acid, uric acid, and triglycerides in the blood.
Treatment for hepatorenal glycogen storage disease involves managing the symptoms and maintaining a stable blood sugar level through frequent meals that contain complex carbohydrates and avoiding excessive fasting. In severe cases, a continuous feeding tube may be necessary, and some individuals may require liver transplantation.
Overall, hepatorenal glycogen storage disease is a rare genetic disorder that disrupts the normal metabolism of glycogen, leading to liver and kidney dysfunction. Early diagnosis and management of symptoms are crucial to improving the quality of life for affected individuals.
