Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Positive Impact of a Modified Atkins Diet on Cognition, Seizures Control and Abnormal Movements in an Adult With Glucose Transporter Type 1 Deficiency Syndrome Deficiency Syndrome

Version 1 : Received: 3 May 2021 / Approved: 6 May 2021 / Online: 6 May 2021 (15:12:17 CEST)

How to cite: Diaz-Arias, L.A.; Henry-Barron, B.J.; Buchholz, A.; Cervenka, M.C. Positive Impact of a Modified Atkins Diet on Cognition, Seizures Control and Abnormal Movements in an Adult With Glucose Transporter Type 1 Deficiency Syndrome Deficiency Syndrome. Preprints 2021, 2021050101 (doi: 10.20944/preprints202105.0101.v1). Diaz-Arias, L.A.; Henry-Barron, B.J.; Buchholz, A.; Cervenka, M.C. Positive Impact of a Modified Atkins Diet on Cognition, Seizures Control and Abnormal Movements in an Adult With Glucose Transporter Type 1 Deficiency Syndrome Deficiency Syndrome. Preprints 2021, 2021050101 (doi: 10.20944/preprints202105.0101.v1).

Abstract

Glucose is the primary energy fuel used by the brain and is transported across the blood-brain barrier (BBB) by the glucose transporter type 1 and 2.[1] A GLUT1 genetic defect is responsible for glucose transporter type 1 deficiency syndrome (GLUT1DS). Patients with GLUT1DS may present with pharmaco-resistant epilepsy, developmental delay, microcephaly, and/or abnormal movements, with tremendous phenotypic variability. Diagnosis is made by the presence of specific clinical features, hypoglycorrhachia and an SLC2A1 gene mutation. Treatment with a ketogenic diet therapy (KDT) is the standard of care as it results in production of ketone bodies which can readily cross the BBB and provide an alternate energy source to the brain in the absence of glucose. KDTs have been shown to reduce seizures and abnormal movements in children diagnosed with GLUT1DS. However, little is known about the impact of KDT on cognitive function, seizures and movement disorders in adults newly diagnosed with GLUT1DS and started on a KDT in adulthood, or the appropriate ketogenic diet therapy to administer. This case report demonstrates the potential benefits of using a modified Atkins diet (MAD), a less restrictive ketogenic diet therapy on cognition, seizure control and motor function in an adult with newly-diagnosed GLUT1SD.

Keywords

GLUT1 deficiency syndrome, modified Atkins diet, cognition, dystonia, dyskinesia, seizure, epilepsy, ketogenic diet, glucose transporter type 1.

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