EP034: Novel use of global untargeted metabolomics in a patient with glycogen storage disease Ib receiving off label empagliflozin treatment

Abstract

Glycogen storage disease type Ib (GSD-Ib) is a rare inborn error of glycogen metabolism. Affected individuals present with fasting intolerance, severe hypoglycemia, hepatomegaly, and lactic acidosis. The disorder is uniquely associated with neutropenia and neutrophil dysfunction causing serious infections, inflammatory bowel disease (IBD), mucosal lesions, and impaired wound healing. Recently, kidney sodium-glucose co-transporter-2 (SGLT2) inhibitors such as empagliflozin, known to reduce plasma levels of 1,5-anhydroglucitol (1,5-AG) and its toxic derivatives in neutrophils, have been described as a new treatment option in case reports of patients with GSD-Ib from Europe and Asia.