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What is Glycogen Storage Disease?

Glycogen Storage Disease (GSD) is a group of rare genetic disorders caused by enzyme deficiencies.  GSD is generally divided into liver and muscle types.   The liver types treated by the Global Center for GSD are 0, Ia, Ib, III, VI, IX, and XI and affect one out of every 100,000 people.

A healthy liver stores glucose from food in the form of glycogen for our body’s future energy needs.  When a constant source of energy is not provided to individuals affected by GSD, their liver fails to store or to breakdown glycogen into glucose, causing the body’s blood glucose levels to drop dangerously low, which leads to severe hypoglycemia, seizures, coma, and potentially death.

Treatment

GSD was almost always fatal until 1971, when it was discovered that continuous glucose therapy could prevent hypoglycemia and improve the derangements in the blood caused from the body trying to rectify the low blood glucose. In 1982 cornstarch therapy was introduced as a slow release form of glucose that allowed spacing feeds every three to four hours.

With the use of ordinary Argo cornstarch, a greater number of patients with GSD are now surviving into adulthood. After nearly 35 years, cornstarch is the only approved therapy available and the families are forced to abide by strict feeding schedules both day and night.

Complications

GSD patients are at high risk for other health conditions related to their bodies compensating for the liver’s dysfunction by finding alternative energy sources. These harmful complications may include:

  • Kidney stones and kidney failure
  • Anemia
  • Hypertrophic cardiomyopathy
  • Elevated triglycerides
  • High cholesterol
  • Liver tumors (both benign and cancerous)
  • Osteoporosis
  • Inflammatory bowel disease
  • Gout
  • Poor growth
  • Muscular weakness
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