Abstracts

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

Abstract number : 3.38
Submission category : 18. Case Studies
Year : 2021
Submission ID : 1825498
Source : www.aesnet.org
Presentation date : 12/6/2021 12:00:00 PM
Published date : Nov 22, 2021, 06:44 AM

Authors :
Luisa Diaz-Arias, MD - Johns Hopkins University; Bobbie Henry-Barron, RD, LDN - Senior Research Dietitian, Institute for Clinical and Translational Research, Johns Hopkins University School of Medicine; Alison Buchholz, PhD - Clinical neuropsychologist, Division of Medical Psychology, Johns Hopkins University; Mackenzie Cervenka, MD - Associate Professor of Neurology, Department of Neurology, Johns Hopkins University School of Medicine

Rationale: Ketogenic diet therapies (KDT) have been shown to reduce seizures and abnormal movements in children diagnosed with Glucose Transporter Type 1 Deficiency Syndrome (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 KDT to administer.

Methods: We describe a case of an adult newly diagnosed with GLUT1DS treated with a modified Atkins diet (MAD) and clinical outcomes with regard to effect on seizure control, paroxysmal exercise-induced dystonia, cognition, as well as long-term side effect profile.

Results: A woman diagnosed with GLUT1DS at the age of 22 years began following MAD at the age of 27 years and not only demonstrated improvement in the frequency and severity of abnormal paroxysmal exertional movements and seizures but also demonstrated significant improvement in cognitive function resulting in independence in performing activities of daily living (ADLs), which was not possible prior to starting MAD. Her dystonic episodes decreased from daily spells to one every one or two months and were typically associated with over-exertion, increased carbohydrate intake, or seen in a catamenial pattern. She tapered antiseizure medications and remained on MAD monotherapy without recurrence of seizures. Her intelligence quotient (IQ) score improved from 37 (severe to moderate intellectual disability) to 52 (mild to moderate intellectual disability) [reliable change index (RCI) > 1.96, p < 0.05]. She now performs ADLs with verbal cues and is engaged in reading lessons which were not possible prior to diet initiation. Her lipid profile and bone health have remained stable over time with no other diet associated adverse effects.
Case Studies