Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

摘要

ObjectivesTo test whether follow-up testing for VLCAD deficiency uncovers a diagnosis in patients with elevations of C14:1 and C14:2 plasma acylcarnitines after a controlled fasting study performed for clinically-suspected hypoglycemia and to compare the acylcarnitine profiles from fasted patients without VLCAD deficiency vs. patients with known VLCAD deficiency to determine if metabolite testing distinguishes these groups.