Glycogen storage disease type I

Glycogen storage disease type I, often shortened to GSD I and also known as von Gierke disease, is an inherited disease in which the liver cannot properly break down stored glycogen, the reserve needed to keep blood sugar adequate. It has two main forms. Type Ia is caused by a deficiency of the enzyme glucose-6-phosphatase, and type Ib by a deficiency of the transport protein glucose-6-phosphate translocase. Both lead to severe low blood sugar and to glycogen building up in the liver and sometimes the kidneys, so patients typically have enlarged livers. Type Ib also brings chronic neutropenia and susceptibility to infection. Frequent feedings of cornstarch or other carbohydrates are the principal treatment. It is the most common glycogen storage disease, was first described by the German doctor Edgar von Gierke in 1929, and affects about 1 in 100,000 births in the American population. This entry is a record of what is held, not medical advice.