Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler

Abstract

A 19-year-old woman with glucose transporter type 1 deficiency syndrome (Glut1DS) treated with ketogenic diet therapy (KDT) became pregnant. Her pregnancy included close monitoring of her diet as well as the fetus. Shortly after delivery, a lumbar puncture was performed followed by confirmatory genetic test diagnosing the neonate with Glut1DS. The neonate was placed on KDT and has been maintained on diet since infancy. The child is now 5 years of age, asymptomatic, and excelling developmentally. This case presents 2 management challenges, that of a patient with Glut1DS during pregnancy followed by managing a neonate on KDT with minimal guidance available in the literature due to the relative rarity of the condition and this unique situation.