Von Gierke disease

Von Gierke disease is an inherited metabolic disorder in which the body is unable to produce the glucose-6-phosphatase enzyme. This enzyme is required in the liver for the body to convert stored carbohydrates (glycogen) into simple sugar (glucose) which cells are able to metabolize. more...

A steady source of glucose is necessary for the body to function properly, and when that is inhibited by this disorder symptoms include hypoglycemia, inability to tolerate fasting, stunted growth, delayed or underdeveloped puberty, enlarged liver, kidney stones, kidney failure, gout, easy bruising, and nosebleeds.

Treatment involves continuous feeding of foods rich in starches and simple sugars. While sleeping patients must use a feeding tube. Drugs are also administered to decrease the risk of developing gout. With treatment, developmental problems and the risk of more serious symptoms has decreased significantly.

Like cystic fibrosis and sickle cell anemia, Von Gierke disease is autosomal recessive. Commonly both parents will be healthy, but they each carry a single copy of the mutated gene responsible for the disease.

Read more at Wikipedia.org