Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy

Developmental Medicine and Child Neurology

Volumn 53, Issue 12, 2011, Pages 1154-1156

  Koy, Anne ^a   Assmann, Birgit ^a   Klepper, Joerg ^b   Mayatepek, Ertan ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b KLINIKUM ASCHAFFENBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; GLUCOSE; GLUCOSE TRANSPORTER 1;

ANTHROPOMETRIC PARAMETERS; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID CULTURE; CHILD; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; EPILEPSY; EVOKED AUDITORY RESPONSE; FATIGUE; FEMALE; FOOD INTAKE; GAIT DISORDER; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; GRAND MAL SEIZURE; HEAD CIRCUMFERENCE DECELERATION; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; KETOGENIC DIET; MOLECULAR GENETICS; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; NEUROPSYCHOLOGICAL TEST; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SPEECH; TYMPANOSTOMY TUBE; VOMITING;

BLOOD GLUCOSE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GLUCOSE METABOLISM DISORDERS; GLUCOSE TRANSPORTER TYPE 1; HETEROZYGOTE; HUMANS; KETOGENIC DIET; MONOSACCHARIDE TRANSPORT PROTEINS; MOVEMENT DISORDERS; MUTATION; NEUROPSYCHOLOGICAL TESTS; SYNDROME;

EID: 81355161380     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04082.x     Document Type: Article

References (15)

1. De Vivo DC, Trifiletti RR, Jacobsen RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991; 325: 703-9.
2. Mueckler M, Hresko RC, Sato M. Structure function and biosynthesis of GLUT1. Biochem Soc Trans 1997; 25: 951-4.
3. Mueckler M, Caruso C, Baldwin SA, et al. Sequence and structure of a human glucose transporter. Science 1985; 229: 941-5.
4. Klepper J, Willemsen M, Verrips A, et al. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 2001; 10: 63-8.
5. Klepper J, Leiendecker B. GLUT1 deficiency syndrome - 2007 update. Dev Med Child Neurol 2007; 49: 707-16.
6. De Vivo DC, Leary L, Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol 2002; 17(Suppl. 3): 15-23.
7. Klepper J, Voit T. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-a review. Eur J Pediatr 2002; 161: 295-304.
8. Vining EP, Freeman JM, Ballaban-Gil K, et al. A multicenter study of the efficacy of the ketogenic diet. Arch Neurol 1998; 55: 1433-7.
9. Rotstein M, Doran J, Yang H, Ullner PM, Engelstad K, De Vivo DC. GLUT1 deficiency and alternating hemiplegia of childhood. Neurology 2009; 73: 2042-4.
10. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce haemolytic anaemia by a cation leak. J Clin Invest 2008; 118: 2157-68.
11. Roubergue A, Apartis E, Mesnage V, et al. Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. J Inherit Metab Dis 2011; 34: 483-8.
12. Joshi C, Greenberg CR, De Vivo D, Wang D, Chan-Lui W, Booth FA. GLUT1 deficiency without epilepsy: yet another case. J Child Neurol 2008; 23: 832-4.
13. Mueckler M, Makepeace C. Transmembrane segment 5 of the Glut1 glucose transporter is an amphipathic helix that forms part of the sugar permeation pathway. J Biol Chem 1999; 274: 10923-6.
14. Baldwin SA. Mammalian passive glucose transporters: members of a ubiquitous family of active and passive transport proteins. Biochem Biophys Acta 1993; 1154: 17-49.
15. Swink TD, Vining EP, Freeman JM. The ketogenic diet: 1997. Adv Pediatr 1997; 44: 297-329.