Ketogenic Diet for Seizure Management in Glucose Transporter Type 1 Deficiency Syndrome: A Case Report

Glucose transporter Type 1 (GLUT1) deficiency syndrome is a rare genetic disorder impairing glucose transport across the bloodbrain barrier, leading to reduced brain glucose availability and neurological symptoms, including epilepsy. The Ketogenic Diet (KD), high in fat and low in carbohydrates, induces ketosis, providing ketone bodies as an alternative brain fuel bypassing GLUT1 transport. This compensates for glucose deficiency, stabilising neuronal activity and reducing seizure frequency in GLUT1 deficiency. This case is of a 10-year-old girl with GLUT1 deficiency syndrome, developmental delay, SLC2A1 gene mutation and refractory epilepsy with 2-3 weekly seizures despite multiple Antiseizure Medications (ASMs). A South Indian-style KD, using traditional household ingredients, was initiated as medical nutrition therapy. Remarkable improvements were observed, a 50% reduction in seizures within one month, 80% reduction by three months and complete seizure freedom by the fourth month. Developmental progress accompanied seizure control and the diet was well-tolerated, maintaining stable nutritional status. This case highlights the efficacy of a culturally tailored KD in managing GLUT1 deficiency, emphasising its potential as a form of therapeutic treatment. Ongoing parental support and supervision were critical for ensuring dietary adherence and optimising outcomes.