Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

Annals of Neurology

Volumn 57, Issue 1, 2005, Pages 111-118

  Wang, Dong ^a   Pascual, Juan M ^a   Yang, Hong ^a   Engelstad, Kristin ^a   Jhung, Sarah ^a   Sun, Ruo Peng ^b   De Vivo, Darryl C ^a,c  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b SHANDONG UNIVERSITY   (China)

^c NEUROLOGICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUCOSE; GLUCOSE TRANSPORTER 1; LACTIC ACID;

ADOLESCENT; ARTICLE; ATAXIA; BLOOD BRAIN BARRIER; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ERYTHROCYTE; FEMALE; GENE INSERTION; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORT; HUMAN; KETOGENIC DIET; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; NUTRITIONAL DEFICIENCY; PRIORITY JOURNAL; SEIZURE; SPASTICITY;

3-O-METHYLGLUCOSE; ADOLESCENT; BLOOD GLUCOSE; BRAIN; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; DIET THERAPY; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EXONS; FEMALE; GLUCOSE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; KETOSES; LACTIC ACID; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 11144223212     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20331     Document Type: Article

References (42)

1. Mueckler M, Caruso C, Baldwin SA, et al. Sequence and structure of a human glucose transporter. Science 1985;229: 941-945.
2. Joost HG, Thorens B, The extended GLUT-family of sugar/ polyol transport facilitators: nomenclature, sequence characteristics, and potential function of its novel members (review). Mol Membr Biol 2001;18:247-256.
3. Marger MD, Saier MH Jr. A major superfamily of transmembrane facilitators that catalyse uniport, symport and antiport. Trends Biochem Sci 1993;18:13-20.
4. Sauer N, Stadler R. A sink-specific H+/monosaccharide co-transporter from Nicotiana tabacum: cloning and heterologous expression in baker's yeast. Plant J 1993;4:601-610.
5. Saier MH Jr, Beatty JT, Goffeau A, et al. The major facilitator superfamily. J Mol Microbiol Biotechnol 1999;1:257-279.
6. Agus DB, Gambhir SS, Pardridge WM, et al. Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J Clin Invest 1997;100:2842-2848.
7. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703-709.
8. Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18:188-191.
9. 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.
10. Klepper J, Willemsen M, Verrips A, et al. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 2001;10: 63-68.
11. Ho Y-Y, Wang D, Hinton V, et al. Glut-1 deficiency syndrome: autosomal dominant transmission of the R126C missense mutation. Ann Neurol 2001;50:S125.
12. Brockmann K, Wang D, Korenke CG, et al. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 2001;50:476-485.
13. Wang D, Ho Y-Y, Pascual JM, et al. Glut-1 deficiency syndrome(Glut-1 DS): R333W genotype and paternal mosaicism. Ann Neurol 2001;50:S124.
14. Wang D, Pascual JM, Ho Y-Y, et al. Glut-1 deficiency syndrome (Glut-1 DS): a severe phenotype associated with compound heterozygosity in trans. Ann Neurol 2001;50:S125.
15. Overweg-Plandsoen WC, Groener JE, Wang D, et al. GLUT-1 deficiency without epilepsy-an exceptional case. J Inherit Metab Dis 2003;26:559-563.
16. Friedman JR, Thiele EA, Wang D, et al. Early onset dystonia/ choreoathetosis/ataxia secondary to GLUT-1 deficiency, responsible to Ketogenic diet. Mov Disord 2002;17:5233.
17. Klepper J, Garcia-Alvarez M, O'Driscoll KR, et al. Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome. J Clin Lab Anal 1999;13: 116-121.
18. Wang D, Kranz-Eble P, De Vivo DC. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat 2000;16:224-231.
19. De Vivo D, Wang D, Pascual JM. Disorders of glucose transport. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ, eds. The molecular and genetic basis of neurologic and psychiatric disease. 3rd ed. Philadelphia: Butterworth-Heinemann, 2003:625-634.
20. Leary LD, Wang D, Nordli DR Jr, et al. Seizure characterization and electroenccphalographic features in Glut-1 deficiency syndrome. Epilepsia 2003;44:701-707.
21. Larder BA, Kohli A, Kellam P, et al. Quantitative detection of HIV-1 drug resistance mutations by automated DNA sequencing. Nature 1993;365:671-673.
22. Zeng H, Parthasarathy R, Rampal AL, Jung CY. Proposed structure of putative glucose channel in GLUT1 facultative glucose transporter. Biophys J 1996;70:14-21.
23. Klepper J, Wang D, Fischbarg J, et al. Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. Neurochem Res 1999;24:587-594.
24. Lange P, Gertsen E, Monden I, et al. Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene. FEBS Lett 2003;555:274-278.
25. Olsowski A, Monden I, Keller K. Cysteine-scanning mutagenesis of flanking regions at the boundary between external loop I or IV and transmembrane segment II or VII in the GLUT1 glucose transporter. Biochemistry 1998;37:10738-10745.
26. Maquat LE. Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 1996; 59:279-286.
27. Berget SM. Exon recognition in vertebrate splicing. J Biol Chem 1995;270:2411-2414.
28. Oka Y, Asano T, Shibasaki Y, et al. C-terminal truncated glucose transporter is locked into an inward-facing form without transport activity. Nature 1990;345:550-553.
29. Mueckler M, Makepeace C. Analysis of transmembrane segment 10 of the Glut1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility. J Biol Chem 2002;277:3498-3503.
30. Zuniga FA, Shi G, Haller JF, et al. A three-dimensional model of the human facultative glucose transporter Glut1. J Biol Chem 2001;276:44970-44975.
31. Hu IC, Singh SP, Snyder AK. Effects of ethanol on glucose transporter expression in cultured hippocampal neurons. Alcohol Clin Exp Res 1995;19:1398-1402.
32. Krauss SW, Diamond I, Gordon AS. Selective inhibition by ethanol of the type 1 facultative glucose transporter (GLUT1). Mol Pharmacol 1994;45:1281-1286.
33. Ho YY, Yang H, Klepper J, et al. Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. Pediatr Res 2001;50: 254-260.
34. Pinkofsky HB, Dwyer DS, Bradley RJ. The inhibition of GLUT1 glucose transport and cytochalasin B binding activity by tricyclic antidepressants. Life Sci 2000;66:271-278.
35. Klepper J, Florcken A, Fischbarg J, Voit T. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro. Eur J Pediatr 2003;162:84-89.
36. Klepper J, Fischbarg J, Vera JC, et al. GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro. Pediatr Res 1999;46:677-683.
37. Stephenson KN, Croxen RL, El-Barbary A, et al. Inhibition of glucose transport and direct interactions with type 1 facilitative glucose transporter (GLUT-1) by etomidate, ketamine, and propofol: a comparison with barbiturates. Biochem Pharmacol 2000;60:651-659.
38. Heilig C, Brosius F, Siu B, et al. Implications of glucose transporter protein type 1 (GLUT1)-haplodeficiency in embryonic stem cells for their survival in response to hypoxic stress. Am J Pathol 2003;163:1873-1885.
39. Heilig CW, Saunders T, Brosius FC 3rd, et al. Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy. Proc Natl Acad Sci U S A 2003;100:15613-15618.
40. Takata K, Hirano H. Mechanism of glucose transport across the human and rat placental barrier: a review. Microsc Res Tech 1997;38:145-152.
41. Klose J. Genotypes and phenotypes. Electrophoresis 1999;20: 643-652.
42. Kulikova-Schupak R, Ho YY, Kranz-Eble P, et al. Stimulation of GLUT-1 gene transcription by thioctic acid and its potential therapeutic value in Glut-1 deficiency syndrome (GLUT-1DS). J Inherit Metab Dis 2001:S106.