title: 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.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Edda
authors.initials: E
authors.lastname: Haberlandt
authors.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Daniela
authors.initials: D
authors.lastname: Karall
authors.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Veronika
authors.initials: V
authors.lastname: Jud
authors.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Sara Sigl
authors.initials: SS
authors.lastname: Baumgartner
authors.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Sibylle
authors.initials: S
authors.lastname: Zotter
authors.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Kevin
authors.initials: K
authors.lastname: Rostasy
authors.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Matthias
authors.initials: M
authors.lastname: Baumann
authors.affiliation: Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Sabine
authors.initials: S
authors.lastname: Scholl-Buergi
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy*; D002648:Child; D050528:Diet, Carbohydrate-Restricted; D055423:Diet, Ketogenic; D005260:Female; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*
chemical_list: D009004:Monosaccharide Transport Proteins