CHSU Discovery

Abstract

Glycogen storage disorder type I (GSD I) is a rare genetic disease caused by mutations in genes that are involved with glycogen synthesis and homeostasis. The standard of care treatment involves the use of uncooked cornstarch to maintain normoglycemia, and patients must adhere to strict, lifelong dietary interventions. There is a need for a deeper understanding of the disease to develop more effective treatments that will also improve quality of life. However, current literature on GSD I and its clinical manifestations is limited, presumably due to its rare prevalence