The Glycogen Storage Disease (GSD) Program & Disorders of Hypoglycemia is a joint program between Connecticut Children’s and the University of Connecticut. Our mission is to pursue research while providing evidence-based care for children with these diseases. The program is staffed by endocrinologists, nurses and dietitians with expertise in GSD and hypoglycemic disorders.
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 GSD Program 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.
GSD patients are at high risk for other health conditions related to the body compensating for the liver’s dysfunction by finding alternative energy sources. These harmful complications may include:
- Kidney stones and kidney failure
- Hypertrophic cardiomyopathy
- Elevated triglycerides
- High cholesterol
- Liver tumors (both benign and cancerous)
- Inflammatory bowel disease
- Poor growth
- Muscular weakness