Glucose transporter protein syndromes

International Review of Neurobiology

Volumn 51, Issue , 2002, Pages 259-288

  De Vivo, Darryl C ^a   Wang, Dong ^a   Pascual, Juan M ^a   Ho, Yuan Yuan ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 1; SLC2A1 PROTEIN, HUMAN;

ANIMAL; FANCONI RENOTUBULAR SYNDROME; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; MALABSORPTION; MUTATION; REVIEW;

ANIMALS; FANCONI SYNDROME; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MALABSORPTION SYNDROMES; METABOLISM, INBORN ERRORS; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION;

EID: 0036368675     PISSN: 00747742     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0074-7742(02)51008-4     Document Type: Review

References (82)

1. Agus D.B. Gambhir S.S. Pardridge W.M. Spielholz C. Baselga J. Vera J.C. Golde D.W. Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters Clin. Invest. 100 1997 2842 2848
2. Anon. The use of barbiturates in the control of intracranial hypertension. Brain Trauma Foundation [review] J. Neurotrauma 13 1996 711 714
3. Antonarakis S.E. Recommendation for a nonmenclature system for human gene mutations Hum. Mutat. 11 1998 1 3
4. Bell I.G. Burant C.F. Takeda J. Gould G.W. Structure and function of mammalian facilitative sugar transporters [review] J. Biol. Chem. 268 1993 19161 19164
5. Brockman K. Korenke C.G. Moers A.V. Weise D. Klepper J. De Vivo D.C. Hanefeld F. Epilepsy with seizures after fasting and retardation—the first familial case of glucose transporter protein (GLUTI) deficiency Eur. J. Paed. Neurol. 3 1999 A90 A91
6. Brockman K. Wang D. Korenke C.G. Moers A.V. Ho Y.Y. Pascual J.M. Kuang K.Y. Yang H. Ma L. Kranz-Eble P. Fischbarg J. Hanefeld F. De Vivo D.C. Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy Ann. Neurol. 50 2001 476 485
7. Burchell A. Re-evaluation of GLUT 7 Biochem. J. 331 1998 973
8. Cahill G.F. Herrara M.G. Morgan A.P. Hormone-fuel interelationships during fasting J. Clin Ivest. 45 1966 1751 1769
9. Carayannopoulos M.O. Chi M.M.-Y. Pingterhaus J.M. mcknight R.A. Mueckler M. Devaskar S.U. Moley K.H. GLUT8 is a glucose transporter responsible for insulin-stimulajted glucose uptake in the blastocyst Proc. Natl. Acad. Sci. USA 97 2000 7313 7318
10. Carruthers A. Facilitated diffusion of glucose Physiol. Rev. 70 1990 1135 1176
11. Challiss J.R. Taylor L.P. Holman G.D. Sugar transport asymmetry in human erythrocytes—the effect of bulk haemoglobin removal and the addition of methylxanthines Biochem. Biophys. Acta 602 1980 155 166
12. Chugani H.T. Phelps M.E. Mazziotta J.C. Positron emission tomography study of human brain functional development Ann. Neurol. 22 1987 487 497
13. De Vivo D.C. The expanding clinical spectrum of mitochondrial disease Brain Dev. 15 1993 1 22
14. De Vivo D.C. Garcia-Alvarez M. Ronen G.M. Behmand R.A. Trifiletti R.R. Glucose transport protein deficiency: An emerging syndrome with therapeutic implications Int. Pediatr. 10 1995 51 56
15. De Vivo D.C. Garcia-Alvarez M. Tritschler H.J. Deficiency of glucose transporter protein type I: Possible therapeutic role for α-lipoic acid (thioctic acid) Diabetes Stoffwech. 5 1996 36 40
16. De Vivo D.C. Hirano M. DiMauro S. Mitochondrial disorders Vinken P.J. Bruyn G.K. Handbook of Clinical Neurology 1996 Elsevier Science BV Amsterdam 389 446
17. De Vivo D.C. Trifiletti R.R. Jacobson R.I. Ronen G.M. Behmand R.A. Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay N. Engl. J. Med. 325 1991 703 709
18. Doege H. Schurman A. Bahrenberg G. Brauers A. Joost H.-G. GLUT8, a novel member of sugar transport facilitator family with glucose transport activity J. Biol. Chem. 275 2000 16275 16280
19. Doege H. Bocianski A. Joost H.G. Schurmann A. Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes Biochem. J. 350 2000 771 776
20. El-Barbary A. Fenstermacher J.D. Haspel H.C. Barbiturate inhibition of GLUT-1 mediated hexose transport in human erythrocytes exhibits substrate dependence for equilibrium exchange but not unidirectional sugar flux Biochemistry 35 1996 15222 15227
21. Elsas L.J. Hillman R.E. Patterson J.H. Rosenberg L.E. Renal and intestinal hexose transport in familial glucose-galactose malabsorption J. Clin. Invest. 49 1970 576 585
22. Englard S. Seifter S. The biochemical functions of ascorbic acid Ann. Rev. Nutr. 6 1986 365 406
23. Fanconi G. Bickel H. Die chronische Aminoacidurie (Aminoasaeurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cytinkrankheit Helv. Paediatr. Acta 4 1949 359 396
24. Fischbarg J. Kuang K. Vera J.C. Arant S. Silverstein S.C. Loike J. Rosen O.M. Glucose transporter serve as water channels Proc. Natl. Acad. Sci. USA 87 1990 3244 3247
25. Fukumoto H. Seino S. Imura H. Seino Y. Eddy R.L. Fukushima Y. Byers M.G. Shows T.B. Bell G.I. Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein Proc. Natl. Acad. Sci. USA 85 1988 5434 5438
26. Gjedde A. Rasmussen M. Pentobarbital anesthesia reduces blood-brain glucose transfer in the rat J. Neurochem. 35 1980 1382 1387
27. Gould G.W. Holman G.D. The glucose transporter family: Structure, function and tissue-specific expression [review] Biochem. J. 295 1993 329 341
28. Guillam M.T. Hummler E. Schaerer E. Yeh J.I. Birnbaum M.J. Beerman F. Schmidt A. Deriaz N. Thorens B. Wu J.Y. Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2 Nat. Genet. 17 1997 327 330
29. Haslam R.H.A. The nervous system Behrman R.E. Kliegman R.M. Arvin A.M. Nelson Textbook of Pediatrics 1996 Saunders Philadelphia, PA 1699
30. +/glucose co-transporter Nature 330 1987 379 381
31. Ho Y.Y. Yang H. Klepper J. Fischbarg J. Wang D. De Vivo D.C. Glucose transporter type 1 deficiency syndrome (Glut-1DS): Methylxanthines potentiate GLUT1 haploinsufficiency in vitro Pediatr. Res. 50 2001 254 260
32. Ho Y.Y. Wang D. Hinton V. Yang H. Vasilescu A. Engelstad K. Jhung S. Hanson K.K. Wolf J.A. De Vivo D.C. Glut-1 deficiency syndrome: Autosomal dominant transmission of the R126C missense mutation Ann. Neurol. 50 2001 S125
33. Honkanen R.A. McBath H. Kushmerick C. Callender G.E. Scarlata S.F. Fenstermacher J.D. Haspel H.C. Barbiturates inhibit hexose transport in cultured mammalian cells and human erythrocytes and interact directly with purified GLUT-1 Biochemistry 34 1995 535 544
34. Hornig D. Distribution of ascorbic acid, metabolites and analogues in man and animals Ann. N.Y. Acad. Sci. 258 1975 103 118
35. Hu X.J. Peng F. Zhou H.Q. Zhang Z.H. Cheng W.Y. Feng H.F. The abnormality of glucose transporter in the erythrocyte membrane of chinese type 2 diabetic patients Biochem. Biophys. Acta 1466 2000 306 314
36. Hug G. Defects in metabolism of carbohydrates Behrman R.E. Vaughan V.C. Nelson W.E. Nelson Textbook of Pediatrics 1987 Saunders Philadelphia, PA
37. Ingwar M. Abdul-Rahman A. Siesjo B.K. Local cerebral glucose consumption in the artificially ventilated rat: influence of nitrous oxide analgesia and phenobarbital anesthesia Acta Physiol. Scand. 109 1980 177 185
38. Kalaria R.N. Gravina S.A. Schmidley J.W. Perry G. Harik S.I. The glucose transporter of the human brain and blood-brain barrier Ann. Neurol. 24 1988 757 764
39. Klepper J. Vera J.C. De Vivo D.C. Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome Ann. Neurol. 44 1998 286 287
40. Klepper J. Garcia-Alvarez M. O'Driscoll K.R. Parides M.K. Wang D. Ho Y.Y. De Vivo D.C. Erythrocyte 3- O -methyl- d -glucose uptake assay for diagnosis of glucose-transporter-protein syndrome Clin. Lab. Anal. 13 1999 116 121
41. Klepper J. Wang D. Fischbarg J. Vera J.C. Jarjour I.T. O'Driscoll K.R. De Vivo D.C. Defective glucose transport across brain tissue barriers: A newly recognized neurological syndrome Neurochem. Res. 24 1999 587 594
42. Klepper J. Fischbarg J. Vera J.C. Wang D. De Vivo D.C. GLUT1-deficiency: Barbiturates potentiate haploinsufficiency in vitro Pediatr. Res. 46 1999 677 683
43. Klepper J. Willemsen M. Verrips A. Guertsen E. Hermann R. Kutzick C. Florcken A. Voit T. Autosomal dominant transmission of GLUT1 deficiency Hum. Mol. Genet. 10 2001 63 68
44. Klip A. Tsakiridis T. Marette A. Ortiz P.A. Regulation of expression of glucose transporters by glucose: a review of studies in vivo and in cell cultures FASEB J. 8 1994 43 53
45. Kulikova-Schupak R. Ho Y.Y. Kranz-Eble P. Yang H. Wang D. De Vivo D.C. Stimulation of GLUT-1 gene transcription by thioctic acid and its potential therapeutic value in Glut-1 deficiency syndrome (Glut-1 DS) J. Inherit. Metab. Dis. 24 Suppl. 1 2001 106
46. Laplane R. Polonovski C. Etienne M. Debray P. Lods J.-C. Pissarro B. L'intolerance aux sucres a transfert intestinal actif Arch. Fr. Pediatr. 19 1962 895 944
47. Lindquist B. Meeuwisse G.W. Chronic diarrhoea caused by monosaccharide malabsorption Acta Paediatr. 51 1962 674 685
48. Longo N. Elsas L.J. Human glucose transporters Adv. Pediatr. 45 1998 293 313
49. Magistretti P.J. Pellerin L. Regulation by neurotransmitters of glial energy metabolism Adv. Exp. Med. Biol. 429 1997 137 143
50. Martin M.G. Lostao M.P. Turk E. Lam J. Kreman M. Wright E.M. Compound missense mutations in the sodium/ d -glucose contransporter result in trafficking defects Gastroenterology 112 1997 1206 1212
51. McVie-Wylie A.J. Lamson D.R. Chen Y.T. Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: A candidate gene for NIDDM susceptibility Genomics 72 2001 113 117
52. Mueckler M. Caruso C. Baldwin S.A. Panico M. Blench I. Morris H.R. Allard W.J. Lienhard G.E. Lodish H.F. Sequence and structure of a human glucose transporter Science 229 1985 941 945
53. Mueckler M. Kruse M. Stuube M. Riggs A.C. Chiu K.C. Permutt M.A. A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity J. Biol. Hematol. 269 1994 17765 17767
54. Murakami T. Nishiyama T. Shirotani T. Shinohara Y. Kan M. Ishii K. Kanai F. Nakazuru S. Ebina Y. Identification of two enhancer elements in the gene encoding the type 1 glucose transporter from the mouse which are responsive to serum, growth factor, and oncogenes J. Biol. Chem. 267 1992 9300 9306
55. Nilsson L. Seisjo B.K. The effect of phenobarbitone anesthesia on blood flow and oxygen consumption in the rat brain Acta Anaesthesiol. Scand. 57 1975 18 24
56. Otsuka T. Wei L. Acuff V.R. Shimizu A. Pettigrew K.D. Patlak C.S. Fenstermacher J. Variation in local cerebral blood flow response to high-dose pentobarbital sodium in the rat Am. J. Physiol. 261 1991 H110 H120
57. Otsuka T. Wei L. Bereczki D. Acuff V.R. Patlak C.S. Fenstermacher J. Pentobarbital produces dissimilar changes in glucose influx and utilization in brain Am. J. Physiol. 261 1991 R265 R275
58. Owens O.E. Morgan A.P. Kemp H.G. Sullivan J.M. Herrera M.G. Cahill G.F. Jr. Brain metabolism during fasting J. Clin. Invest. 46 1967 1589 1595
59. Padh H. Cellular functions of ascorbic acid Biochem. Cell. Biol. 68 1990 1166 1173
60. Pascual J.M. van Heertum R.L. Wang D. Engelstad K. De Vivo D.C. Regional deficits in cerebral glucose uptake caused by mutations of the Glut1 transporter Ann. Neurol. 2002 (in press)
61. Pellerin L. Magistretti P.J. Glutamate uptake into astrocytes stimulates aerobic glycolysis: A mechanism coupling neuronal activity to glucose utilization Proc. Natl. Acad. Sci. USA 91 1994 10625 10629
62. Pellerin L. Pellegri G. Bittar P.G. Charnay Y. Bouras C. Martin J.L. Stella N. Magistretti P.J. Evidence supporting the existence of an activity-dependent astrocyte-neuron lactate shuttle Dev. Neurosci. 20 1998 291 299
63. Rice J.E. Livingstone C. Gould G.W. Trafficking, targeting and translocation of the insulin-responsive transporter, GLUT4, in adipocytes Biochem. Soc. Trans. 24 1996 540 546
64. Saija A. Princi P. De Pasquale R. Costa G. Modification of the permeability of the blood-brain barrier and local cerebral metabolism in pentobarbital- and ketamine-anaesthetized rats Neuropharmacology 28 1989 997 1002
65. Santer R. Schneppenheim R. Dombrowski A. Gotze H. Steinmann B. Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome Nat. Genet. 17 1997 324 326
66. Santer R. Schneppenheim R. Suter D. Schaub J. Steinmann B. Fanconi-Bickel syndrome—the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature Eur. J. Pediatr. 157 1998 783 797
67. Schneider A.J. Kinter W.B. Stirling C.E. Glucose-galactose malabsorption. Report of a case with autoradiographic studies of a mucosal biopys N. Engl. J. Med. 274 1966 305 312
68. Seidner G. Alvarez M.G. Yeh J.I. O'Driscoll K.R. Klepper J. Stump T.S. Wang D. Spinner N.B. Birnbaum M.J. De Vivo D.C. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier Nat. Genet. 18 1998 188 191
69. St. Denis J.F. Cushman S.W. Role of SNARE's in the GLUT4 translocation response to insulin in adipose cells and muscle J. Basic Clin. Pharmacol. 9 1998 153 165
70. Steinfelder H.J. Petho-Schramm S. Methylxanthines inhibit glucose transport in rat adipocytes by two independent mechanisms Biochem. Pharmacol. 40 1990 1154 1157
71. Stenbit A.E. Tsao T.S. Li J. Burcelin R. Geenen D.L. Factor S.M. Houseknecht K. Katz E.B. Charron M.J. GLUT4 heterozygous knockout mice develop muscle insulin resistance and diabetes Nat. Med. 3 1997 1096 1101
72. Todd M.M. Warner D.S. A comfortable hypothesis reevaluated: Cerebral metabolic depression and brain protection during ischemia Anesthesiology 76 1992 161 164
73. +-dependent l -ascorbic acid transporter Nature 399 1999 70 75
74. +/glucose cotransporter Nature 350 1991 354 356
75. Wang D. Kranz-Eble P. De Vivo D.C. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome Hum. Mutat. 16 2000 224 231
76. Wang D. Ho Y.Y. Pascual J. Hinton V. Yang H. Anolik M. Kranz-Eble P. Jhung S. Engelstad K. De Vivo D.C. Glut-1 deficiency syndrome (Glut-1DS): R333W genotype and paternal mosaicism Ann. Neurol. 50 2001 S124
77. Wang D. Pascual J. Ho Y.Y. Hinton V. Yang H. Kranz-Eble P. Jhung S. Engelstad K. De Vivo D.C. Glut-1 deficiency syndrome (Glut-1DS): A severe phenotype associated with compound heterozygosity in trans Ann. Neurol. 50 2001 S125
78. Wang D. Brockman K. Korenke C.G. Von Moers A. Ho Y.Y. Pascual J.M. Kuang K.Y. Yang H. Ma L. Kranz-Eble P. Fischbarg J. Hanefeld F. De Vivo D.C. Glut-1 deficiency syndrome: Autosomal dominant transmission of the R126H missense mutation Ann. Neurol. 50 2001 S125
79. Wei L. Otsuka T. Acuff V. Bereczki D. Pettigrew K. Patlak C. Fenstermacher J.D. The velocities of red cell and plasma flows through parenchymal microvessels of rat brain are decreased by pentobarbital J. Cereb. Blood Flow Metab. 13 1993 487 497
80. Wright E.M. Genetic disorders of membrane transport. I. Glucose galactose malabsorption Am. J. Physiol. 275 1998 G879 G882
81. Wright E.M. Renal Na(+)-glucose cotransporters Am. J. Physiol. Renal Physiol. 280 2001 F10 F18
82. Yoa R.G. Rapin J.R. Wiernsperger N.F. Martinand A. Belleville I. Demonstration of defective glucose uptake and storage in erythrocytes from non-insulin dependent diabetic patients and effects of metformin Clin. Exp. Pharmacol. Physiol. 20 1993 563 567