Glycogen storage disease type I (GSDI), also known as von Gierke's disease, is a rare genetic disorder that affects the body's ability to regulate glucose, a sugar that serves as the primary source of energy for cells. It is classified as an autosomal recessive disorder, meaning that an individual must inherit two copies of the abnormal gene, one from each parent, to develop the disease.
GSDI manifests as a deficiency in the glucose-6-phosphatase enzyme, which is responsible for converting glycogen (a stored form of glucose) into glucose, and thus helps maintain normal blood sugar levels. As a result, individuals with GSDI are unable to break down glycogen properly, leading to the accumulation of glycogen primarily in the liver and kidneys.
This excessive glycogen buildup in the liver can cause enlarged liver (hepatomegaly), low blood sugar levels (hypoglycemia), reduced growth, and increased susceptibility to infections. Furthermore, the kidneys can be affected by glycogen deposition, resulting in renal dysfunction and the formation of kidney stones.
Management of GSDI generally revolves around maintaining sufficient glucose levels through a carefully controlled diet, often requiring frequent feeding, often at night, to prevent hypoglycemia. Some patients may also require cornstarch or other slowly digestible carbohydrates to provide a constant source of glucose between meals.
GSDI type I is a chronic condition that usually requires lifelong management. With appropriate treatment and close monitoring, individuals affected by this condition can lead relatively normal lives and prevent complications related to low blood sugar levels and excessive glycogen accumulation.
