Glycogen Storage Disease Program
The University of Connecticut / Connecticut Children’s Medical Center Glycogen Storage Disease Program is the largest clinical and research program for the liver glycogen storage diseases. Its mission is to pursue research while providing evidence based care for children and adults with the disease. The program collaborates with centers of expertise worldwide.
What is Glycogen Storage Disease?
Glycogen Storage Disease is a group of rare genetic diseases caused by errors in carbohydrate metabolism (mechanisms that direct the storage and release of glucose in the liver). Without a constant sources of energy, required for brain function, blood glucose levels drop dangerously low, leading to seizures, coma, and potentially death.
The GSD program is led by globally recognized endocrinologist and researcher, David A. Weinstein, MD, MMSc. More than 500 patients travel from 49 states and 45 countries for his team’s expert care.
GSD services are provided on the eight floor of Connecticut Children’s main campus in Hartford. For more information about GSD services at Connecticut Children’s, or to schedule an appointment, please contact us at 860.837.7800.
UConn Health is home to the GSD program’s research laboratories, where Dr. Weinstein and his team are on the verge of the first gene therapy clinical trials for GSD. Natural history studies and clinical trials for advances in treatment are ongoing at Connecticut Children’s Medical Center.