ea0070aep309 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020
Tamara Mathis
, Martin Poms
, Matthias Gautschi
, Barbara Plecko
, Matthias Baumgartner
, Hochuli Michel
Background/Introduction: The primary metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (e.g. hypertriglyceridemia, hyperlactatemia, hyperuricemia). The aim of this study was to broadly assess further perturbations of the metabolic network in GSDI by using untargeted plasma metabolomics.Methods: Plasma samples of 14 adult GSDI patients (11 GSDIa, 3 GSDIb. Mean age 26.4&...