메뉴 건너뛰기




Volumn 17, Issue 2, 2004, Pages 193-196

Impaired glucose transport into the brain: The expanding spectrum of glucose transporter type 1 deficiency syndrome

Author keywords

Blood brain barrier; Epilepsy; Glucose transporter type 1; Glucose transporter type 1 deficiency syndrome; Glut1; Ketogenic diet; Ketosis; Seizures

Indexed keywords

ANTICONVULSIVE AGENT; ANTIOXIDANT; CARBAMAZEPINE; CHLORAL HYDRATE; DIAZEPAM; GLUCOSE TRANSPORTER 1; PHENOBARBITAL; PHENYTOIN; THIOCTIC ACID;

EID: 1842610160     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200404000-00018     Document Type: Review
Times cited : (38)

References (35)
  • 1
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • 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.
    • (1991) N Engl J Med , vol.325 , pp. 703-709
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3
  • 2
    • 0035685698 scopus 로고    scopus 로고
    • The extended GLUT-family of sugar/polyol transport facilitators: Nomenclature, sequence characteristics, and potential function of its novel members
    • 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.
    • (2001) Mol Membr Biol , vol.18 , pp. 247-256
    • Joost, H.G.1    Thorens, B.2
  • 3
    • 0036362011 scopus 로고    scopus 로고
    • Expression, regulation, and functional role of glucose transporters (GLUTs) in brain
    • Dwyer DS, Vannucci SJ, Simpson IA. Expression, regulation, and functional role of glucose transporters (GLUTs) in brain. Int Rev Neurobiol 2002; 51:159-188.
    • (2002) Int Rev Neurobiol , vol.51 , pp. 159-188
    • Dwyer, D.S.1    Vannucci, S.J.2    Simpson, I.A.3
  • 4
    • 0033850218 scopus 로고    scopus 로고
    • Mutational analysis of GLUT1 (SLC2A1) in GLUT1 deficiency syndrome
    • Wang D, Kranz-Eble P, De Vivo DC. Mutational analysis of GLUT1 (SLC2A1) in GLUT1 deficiency syndrome. Hum Mutat 2000; 16:224-231.
    • (2000) Hum Mutat , vol.16 , pp. 224-231
    • Wang, D.1    Kranz-Eble, P.2    De Vivo, D.C.3
  • 5
    • 0032943723 scopus 로고    scopus 로고
    • Defective glucose transport across brain tissue barriers: A newly recognized neurological syndrome
    • 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.
    • (1999) Neurochem Res , vol.24 , pp. 587-594
    • Klepper, J.1    Wang, D.2    Fischbarg, J.3
  • 6
    • 17344367164 scopus 로고    scopus 로고
    • GLUT1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
    • Seidner G, Alvarez MG, Yeh JI, et al. GLUT1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998; 18:188-191.
    • (1998) Nat Genet , vol.18 , pp. 188-191
    • Seidner, G.1    Alvarez, M.G.2    Yeh, J.I.3
  • 7
    • 0013426972 scopus 로고    scopus 로고
    • GLUT1 deficiency syndrome (GLUT1-DS): Autosomal dominant transmission of the R126C missense mutation [abstract]
    • Ho YY, Wang D, Hinton V, et al. GLUT1 deficiency syndrome (GLUT1-DS): autosomal dominant transmission of the R126C missense mutation [abstract]. Ann Neurol 2001; 50 (Suppl):S125.
    • (2001) Ann Neurol , vol.50 , Issue.SUPPL.
    • Ho, Y.Y.1    Wang, D.2    Hinton, V.3
  • 8
    • 0034785807 scopus 로고    scopus 로고
    • Autosomal dominant GLUT1 deficiency syndrome and familial epilepsy
    • Brockmann K, Wang D, Korenke CG, et al. Autosomal dominant GLUT1 deficiency syndrome and familial epilepsy. Ann Neurol 2001; 50:476-485.
    • (2001) Ann Neurol , vol.50 , pp. 476-485
    • Brockmann, K.1    Wang, D.2    Korenke, C.G.3
  • 9
    • 0035173740 scopus 로고    scopus 로고
    • Autosomal dominant transmission of GLUT1 deficiency
    • Klepper J, Willemsen M, Verrips A, et al. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 2001; 10:63-68.
    • (2001) Hum Mol Genet , vol.10 , pp. 63-68
    • Klepper, J.1    Willemsen, M.2    Verrips, A.3
  • 10
    • 1542782541 scopus 로고    scopus 로고
    • Functional studies of threonine 310 mutations in GLUT1: T310I is pathogenic, causing GLUT1 deficiency
    • Wang D, Pascual JM, Iserovich P, et al. Functional studies of threonine 310 mutations in GLUT1: T310I is pathogenic, causing GLUT1 deficiency. J Biol Chem 2003; 278:49015-49021.
    • (2003) J Biol Chem , vol.278 , pp. 49015-49021
    • Wang, D.1    Pascual, J.M.2    Iserovich, P.3
  • 11
    • 0345615778 scopus 로고    scopus 로고
    • GLUT1 deficiency syndrome (GLUT1-DS): R333W genotype and paternal mosaicism
    • Wang D, Ho YY, Pascual JM, et al. GLUT1 deficiency syndrome (GLUT1-DS): R333W genotype and paternal mosaicism [abstract]. Ann Neurol 2001; 50 (Suppl):S124.
    • (2001) Ann Neurol , vol.50 , Issue.SUPPL.
    • Wang, D.1    Ho, Y.Y.2    Pascual, J.M.3
  • 12
    • 0344825190 scopus 로고    scopus 로고
    • Reversible infantile hypoglycorrhachia: Possible transient disturbance in glucose transport?
    • Klepper J, De Vivo DC, Webb DW, et al. Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport? Pediatr Neurol 2003; 29:321-325.
    • (2003) Pediatr Neurol , vol.29 , pp. 321-325
    • Klepper, J.1    De Vivo, D.C.2    Webb, D.W.3
  • 14
    • 0036261454 scopus 로고    scopus 로고
    • Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: Impaired glucose transport into brain - A review
    • 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.
    • (2002) Eur J Pediatr , vol.161 , pp. 295-304
    • Klepper, J.1    Voit, T.2
  • 15
    • 0036340248 scopus 로고    scopus 로고
    • EEG features of GLUT1 deficiency syndrome
    • von Moers A, Brockmann K, Wang D, et al. EEG features of GLUT1 deficiency syndrome. Epilepsia 2002; 43:941-945.
    • (2002) Epilepsia , vol.43 , pp. 941-945
    • Von Moers, A.1    Brockmann, K.2    Wang, D.3
  • 16
    • 0037651879 scopus 로고    scopus 로고
    • Seizure characterization and electroencephalographic features in GLUT1 deficiency syndrome
    • Leary LD, Wang D, Nordli DR, et al. Seizure characterization and electroencephalographic features in GLUT1 deficiency syndrome. Epilepsia 2003; 44:701-707. This article characterizes distinctive EEG-features associated with GLUT1-DS.
    • (2003) Epilepsia , vol.44 , pp. 701-707
    • Leary, L.D.1    Wang, D.2    Nordli, D.R.3
  • 17
    • 0036791941 scopus 로고    scopus 로고
    • Imaging the metabolic footprint of GLUT1 deficiency on the brain
    • Pascual JM, Van Heertum RL, Wang D, et al. Imaging the metabolic footprint of GLUT1 deficiency on the brain. Ann Neurol 2002; 52:458-464. An important study on metabolic brain imaging in GLUT1-DS.
    • (2002) Ann Neurol , vol.52 , pp. 458-464
    • Pascual, J.M.1    Van Heertum, R.L.2    Wang, D.3
  • 18
    • 0023635631 scopus 로고
    • Positron emission tomography study of human brain functional development
    • Chugani HT, Phelps ME, Mazziotta JC. Positron emission tomography study of human brain functional development. Ann Neurol 1987; 22:487-497.
    • (1987) Ann Neurol , vol.22 , pp. 487-497
    • Chugani, H.T.1    Phelps, M.E.2    Mazziotta, J.C.3
  • 19
    • 0032030166 scopus 로고    scopus 로고
    • A critical period of brain development: Studies of cerebral glucose utilization with PET
    • Chugani HT. A critical period of brain development: studies of cerebral glucose utilization with PET. Prev Med 1998; 27:184-188.
    • (1998) Prev Med , vol.27 , pp. 184-188
    • Chugani, H.T.1
  • 20
    • 0032946375 scopus 로고    scopus 로고
    • Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome
    • 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.
    • (1999) J Clin Lab Anal , vol.13 , pp. 116-121
    • Klepper, J.1    Garcia-Alvarez, M.2    O'Driscoll, K.R.3
  • 21
    • 0030755496 scopus 로고    scopus 로고
    • The ketogenic diet revisited: Back to the future
    • Nordli DR Jr, De Vivo DC. The ketogenic diet revisited: back to the future. Epilepsia 1997; 38:743-749.
    • (1997) Epilepsia , vol.38 , pp. 743-749
    • Nordli Jr., D.R.1    De Vivo, D.C.2
  • 22
    • 0037000620 scopus 로고    scopus 로고
    • Glucose transporter 1 deficiency syndrome and other glycolytic defects
    • De Vivo DC, Leary L, Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol 2002; 17 (Suppl 3):S15-S23.
    • (2002) J Child Neurol , vol.17 , Issue.3 SUPPL.
    • De Vivo, D.C.1    Leary, L.2    Wang, D.3
  • 23
    • 0034925884 scopus 로고    scopus 로고
    • Glucose transporter type 1 deficiency syndrome (GLUT1-DS): Methylxanthines potentiate GLUT1 haploinsufficiency in vitro
    • Ho YY, Yang H, Klepper J, et al. Glucose transporter type 1 deficiency syndrome (GLUT1-DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. Pediatr Res 2001; 50:254-260.
    • (2001) Pediatr Res , vol.50 , pp. 254-260
    • Ho, Y.Y.1    Yang, H.2    Klepper, J.3
  • 24
    • 0032748870 scopus 로고    scopus 로고
    • GLUT1-deficiency: Barbiturates potentiate haploinsufficiency in vitro
    • Klepper J, Fischbarg J, Vera JC, et al. GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro. Pediatr Res 1999; 46:677-683.
    • (1999) Pediatr Res , vol.46 , pp. 677-683
    • Klepper, J.1    Fischbarg, J.2    Vera, J.C.3
  • 25
    • 0242600762 scopus 로고    scopus 로고
    • Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
    • Klepper J, Florcken A, Fischbarg J, et al. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro. Eur J Pediatr 2003; 162:84-89. A recent study with therapeutic implications.
    • (2003) Eur J Pediatr , vol.162 , pp. 84-89
    • Klepper, J.1    Florcken, A.2    Fischbarg, J.3
  • 26
    • 0142153877 scopus 로고    scopus 로고
    • Interactions of androgens, green tea catechins and the antiandrogen flutamide with the external glucose-binding site of the human erythrocyte glucose transporter GLUT1
    • Naftalin RJ, Afzal I, Cunningham P, et al. Interactions of androgens, green tea catechins and the antiandrogen flutamide with the external glucose-binding site of the human erythrocyte glucose transporter GLUT1. Br J Pharmacol 2003; 140:487-499.
    • (2003) Br J Pharmacol , vol.140 , pp. 487-499
    • Naftalin, R.J.1    Afzal, I.2    Cunningham, P.3
  • 27
    • 0344872553 scopus 로고    scopus 로고
    • Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene
    • 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.
    • (2003) FEBS Lett , vol.555 , pp. 274-278
    • Lange, P.1    Gertsen, E.2    Monden, I.3
  • 28
    • 0035370126 scopus 로고    scopus 로고
    • Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
    • Klepper J, Monden I, Guertsen E, et al. Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene. FEBS Lett 2001; 498:104-109.
    • (2001) FEBS Lett , vol.498 , pp. 104-109
    • Klepper, J.1    Monden, I.2    Guertsen, E.3
  • 29
    • 0027082962 scopus 로고
    • Glucose transporter oligomeric structure determines transporter function: Reversible redox-dependent interconversions of tetrameric and dimeric GLUT1
    • Hebert DN, Carruthers A. Glucose transporter oligomeric structure determines transporter function: reversible redox-dependent interconversions of tetrameric and dimeric GLUT1. J Biol Chem 1992; 267:23829-23838.
    • (1992) J Biol Chem , vol.267 , pp. 23829-23838
    • Hebert, D.N.1    Carruthers, A.2
  • 30
    • 0022360064 scopus 로고
    • Sequence and structure of a human glucose transporter
    • Mueckler M, Caruso C, Baldwin SA, et al. Sequence and structure of a human glucose transporter. Science 1985; 229:941-945.
    • (1985) Science , vol.229 , pp. 941-945
    • Mueckler, M.1    Caruso, C.2    Baldwin, S.A.3
  • 31
    • 0029911355 scopus 로고    scopus 로고
    • GLUT1 glucose transporter activity in human brain injury
    • Cornford EM, Hyman S, Cornford ME, et al. GLUT1 glucose transporter activity in human brain injury. J Neurotrauma 1996; 13:523-536.
    • (1996) J Neurotrauma , vol.13 , pp. 523-536
    • Cornford, E.M.1    Hyman, S.2    Cornford, M.E.3
  • 32
    • 0031876240 scopus 로고    scopus 로고
    • Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome
    • Klepper J, Vera JC, De Vivo DC. Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome. Ann Neurol 1998; 44:286-287.
    • (1998) Ann Neurol , vol.44 , pp. 286-287
    • Klepper, J.1    Vera, J.C.2    De Vivo, D.C.3
  • 33
    • 0142244201 scopus 로고    scopus 로고
    • Implications of glucose transporter protein type 1 (GLUT1)- haplodeficiency in embryonic stem cells for their survival in response to hypoxic stress
    • 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.
    • (2003) Am J Pathol , vol.163 , pp. 1873-1885
    • Heilig, C.1    Brosius, F.2    Siu, B.3
  • 34
    • 0347994902 scopus 로고    scopus 로고
    • Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy
    • 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. A current mouse model of GLUT1 deficiency.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 15613-15618
    • Heilig, C.W.1    Saunders, T.2    Brosius III, F.C.3
  • 35
    • 0034118154 scopus 로고    scopus 로고
    • Glucose transporters: Structure, function and consequences of deficiency
    • Brown GK. Glucose transporters: structure, function and consequences of deficiency. J Inherit Metab Dis 2000; 23:237-246.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 237-246
    • Brown, G.K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.