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Neuropediatrics. 2014 Apr;45(2):117-9. doi: 10.1055/s-0033-1349225. Epub 2013 Jul 25.

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

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Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.


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.

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