Glucose transporter type 1 deficiency syndrome effectively treated with modified Atkins diet.

Abstract

This is a report on the successful treatment of a 6-year-old girl with genetically proven glucose transporter type 1 deficiency syndrome (GLUT1-DS) with modified Atkins diet (MAD). GLUT1-DS is an inborn disorder of glucose transport across the blood-brain barrier, which leads to energy deficiency of the brain with a broad spectrum of neurological symptoms including therapy-resistant epilepsy. Usually classical ketogenic diet (KD) is the standard treatment for patients with GLUT1-DS. Treatment with MAD, a variant of KD, for an observation period of 17 months resulted in improvement of seizures, alertness, cognitive abilities, and electroencephalography in this patient.

• Authors: Edda Haberlandt, Daniela Karall, Veronika Jud, Sara Sigl Baumgartner, Sibylle Zotter, Kevin Rostasy, Matthias Baumann, Sabine Scholl-Buergi
• Journal: Neuropediatrics (Neuropediatrics) Vol. 45 Issue 2 Pg. 117-9 (Apr 2014) ISSN: 1439-1899 [Electronic] Germany
• PMID: 23888468 (Publication Type: Case Reports, Journal Article)
• Copyright: Georg Thieme Verlag KG Stuttgart · New York.

Chemical References

• Monosaccharide Transport Proteins

Topics

• Carbohydrate Metabolism, Inborn Errors (diet therapy)
• Child
• Diet, Carbohydrate-Restricted
• Diet, Ketogenic
• Female
• Humans
• Monosaccharide Transport Proteins (deficiency)