Glycogen Storage Disease Program

What Is Glycogen Storage Disease?

Glycogen storage disease is a rare genetic disorder affecting 1 in 100,000 newborns. Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Learn more about glycogen storage disease.

Our Team

The GSD program is led by globally recognized endocrinologist and researcher, David A. Weinstein, M.D., M.Sc. More than 500 patients travel from 49 states and 45 countries for his team’s expert care. Members of Weinstein’s GSD laboratory at UConn Health include Youngmok Lee, Ph.D., and Ana Estrella, M.D.

Locations

GSD patient 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 860-837-7800.

Our Research

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.

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