GLUT‐1 deficiency without epilepsy—an exceptional case
- 1 September 2003
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 26 (6) , 559-563
- https://doi.org/10.1023/a:1025999914822
Abstract
The GLUT-1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood–brain barrier as a result of a defect in the glucose-transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly. In most patients, treatment with a ketogenic diet proved to be successful in controlling the epilepsy. We report a 9-year-old boy with retardation and ataxia, but without epilepsy, caused by GLUT-1 deficiency, proven biochemically and by DNA analysis. Treatment with a medium-chain triglyceride ketogenic diet had a beneficial effect.Keywords
This publication has 9 references indexed in Scilit:
- EEG Features of Glut‐1 Deficiency SyndromeEpilepsia, 2002
- Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsyAnnals of Neurology, 2001
- Autosomal dominant transmission of GLUT1 deficiencyHuman Molecular Genetics, 2001
- The extended GLUT-family of sugar/polyol transport facilitators: nomenclature, sequence characteristics, and potential function of its novel membersMolecular Membrane Biology, 2001
- Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency SyndromeHuman Mutation, 2000
- Glucose transporter type 1 deficiency: a study of two cases with video-EEG.European Journal of Pediatrics, 1999
- The Efficacy of the Ketogenic Diet—1998: A Prospective Evaluation of Intervention in 150 ChildrenPediatrics, 1998
- GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrierNature Genetics, 1998
- Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental DelayNew England Journal of Medicine, 1991