Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: Impaired glucose transport into brain - A review

European Journal of Pediatrics

Volumn 161, Issue 6, 2002, Pages 295-304

  Klepper, Jörg ^a   Voit, Thomas ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

CSF; Glucose transporter protein type 1; Hypoglycorrhahcia; Ketogenic diet

Indexed keywords

ANESTHETIC AGENT; ANTICONVULSIVE AGENT; BARBITURIC ACID DERIVATIVE; CARBAMAZEPINE; CHLORAL HYDRATE; DIAZEPAM; DIOXIN; GENISTEIN; GLUCOSE TRANSPORTER 1; GUANOSINE TRIPHOSPHATE DERIVATIVE; KETONE BODY; METHYLXANTHINE DERIVATIVE; PHENOBARBITAL; PHENYTOIN; PROTEIN INHIBITOR; PROTEIN TYROSINE KINASE INHIBITOR; THIOCTIC ACID; TRICYCLIC ANTIDEPRESSANT AGENT;

ATAXIA; BLOOD BRAIN BARRIER; BRAIN CYSTICERCOSIS; BRAIN DEVELOPMENT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DYSTONIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; ERYTHROCYTE; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE TRANSPORT; HUMAN; HYPOGLYCEMIA; IMMUNOREACTIVITY; KETOGENIC DIET; LUMBAR PUNCTURE; MENINGITIS; MICROCEPHALY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN DEFICIENCY; REVIEW; SARCOIDOSIS; SEIZURE; SPASTICITY; SPINAL CORD DISEASE; SUBARACHNOID HEMORRHAGE; TRICHINOSIS;

EID: 0036261454     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-0939-3     Document Type: Review

References (84)

1. Mammalian passive glucose transporters: Members of an ubiquitous family of active and passive transport proteins
2. Trafficking of glucose transporters-signals and mechanisms
3. Regulation of GLUT1 in response to cellular stress
4. Complications of the ketogenic diet
5. Cloning and characterization of a cDNA encoding the rat brain glucose-transporter protein
6. Glucose transporter type 1 deficiency: A study of two cases with video-EEG
7. Epilepsy with seizures after fasting and retardation: The first familial cases of glucose transporter protein (GLUT1) deficiency
8. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy
9. Glucose transporters: Structure, function and consequences of deficiency
10. Development of regional brain glucose metabolism in relation to behaviour and plasticity
11. Circulation and energy metabolism of the brain
12. Glut1 glucose transporter activity in human brain injury
13. Dynamic [18F]fluorodeoxyglucose positron emission tomography and hypometabolic zones in seizures: Reduced capillary influx
14. Interictal seizure resections show two configurations of endothelial Glut1 glucose transporter in the human blood-brain barrier
15. Substrate utilization and brain development
16. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
17. Glucose transport protein deficiency: An emerging syndrome with therapeutic implications
18. Deficiency of glucose transporter protein type I: Possible therapeutic role for alpha-lipoic acid (thioctic acid)
19. Identification and characterization of the glucose transporter of the blood-brain barrier by cytochalasin B binding and immunological reactivity
20. Contribution of alpha-adrenergic and beta-adrenergic stimulation to ischemia-induced glucose transporter (GLUT) 4 and GLUT1 translocation in the isolated perfused rat heart
21. Myocardial glucose transporter GLUT1: Translocation induced by insulin and ischemia
22. Glucose transporters serve as water channels
23. Effects of anticonvulsants on GLUT1-mediated glucose transport and clinical implications
24. Ketogenic diet: A time-tested, effective, and safe method for treatment of intractable childhood epilepsy
25. Characterization and expression of human HepG2/erythrocyte glucose-transporter gene
26. Alterations of glucose transporter mRNA and protein levels in brain following thermal injury and sepsis in mice
27. Facilitative glucose transporters: An expanding family
28. The glucose transporter family: Structure, function and tissue-specific expression
29. Hyperglycaemia-induced subcellular redistribution of GLUT1 glucose transporters in cultured human term placental trophoblast cells
30. The proton-linked monocarboxylate transporter (MCT) family: Structure, function and regulation
31. Activation of Glut1 glucose transporter in response to inhibition of oxidative phosphorylation
32. Glucose transporter type 1 deficiency syndrome (glut1ds): Methylxanthines potentiate glut1 haploinsufficiency in vitro
33. Effects of ethanol on glucose transporter expression in cultured hippocampal neurons
34. Blood-brain barrier, ion homeostatis and epilepsy: Possible implications
35. The extended GLUT1-family of sugar/polyol transport facilitators - Nomenclature, sequence characteristics, and potential function of its novel members
36. Lilly lecture 1995. Glucose transport: Pivotal step in insulin action
37. Glucose transporter protein syndrome (GTPS)
38. Neuroglycopenia: Genotype-phenotype correlation
39. GTPS: Defining a new syndrome
40. GLUT1-deficiency: Barbiturates potentiate haploinsufficiency in vitro
41. Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome
42. Defective glucose transport across brain tissue barriers: A newly recognized neurological syndrome
43. Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
44. GLUT1-deficiency syndrome: The European experience
45. Autosomal dominant transmission of GLUT1 deficiency
46. The antihyperglycemic drug alpha-lipoic acid stimulates glucose uptake via both GLUT4 translocation and GLUT4 activation: Potential role of p38 mitogen-activated protein kinase in GLUT4 activation
47. Cerebral glucose transporter expression in HIV infection
48. Selective inhibition by ethanol of the type 1 facilitative glucose transporter (GLUT1)
49. Upregulation of blood-brain barrier GLUT1 glucose transporter protein and mRNA in experimental chronic hypoglycemia
50. Herpes simplex virus vectors overexpressing the glucose transporter gene protect against seizure-induced neuron loss
51. Ketogenic diet for the treatment of refractory epilepsy in children: Systematic review of efficacy
52. Human glucose transporters
53. Protection against oxidative stress-induced insulin resistance in rat L6 muscle cells by mircomolar concentrations of alpha-lipoic acid
54. Glucose transporter proteins in brain
55. Mechanism of action of dioxin-type chemicals, pesticides, and other xenobiotics affecting nutritional indexes
56. Glucose transporter gene expression: Regulation of transcription and mRNA stability
57. Facilitative glucose transporters
58. Sequence and structure of a human glucose transporter
59. Structure, function and biosynthesis of GLUT1
60. Ketogenic diets
61. GLUT1 deficiency without epilepsy, an unusual cause for developmental delay
62. The inhibition of GLUT1 glucose transport and cytochalasin B binding activity by tricyclic antidepressants
63. Glycopeptide enkephalin analogues produce analgesia in mice: Evidence for penetration of the blood-brain barrier
64. Lactic acidemia: Disorders of pyruvate carboxylase and pyruvate dehydrogenase
65. Immunocytochemical expression of the blood-brain barrier glucose transporter (GLUT-1) in neural transplants and brain wounds
66. Immunocytochemical distribution of the brain glucose transporter (GLUT 1) in experimental gliosis
67. Additive effects of hyperinsulinemia and ischemia on myocardial GLUT1 and GLUT4 translocation in vivo
68. Mechanisms underlying the anti-epileptic efficacy of the ketogenic diet
69. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
70. Blood-brain barrier glucose transporter: Effects of hypo- and hyper-glycemia revisited
71. Inhibition of glucose transport and direct interactions with type 1 facilitative glucose transporter (GLUT-1) by etomidate, ketamine, and propofol: A comparison with barbiturates
72. Acute pancreatitis causing death in a child on the ketogenic diet
73. Differential effects of lipoic acid stereoisomers on glucose metabolism in insulin-resistant skeletal muscle
74. The ketogenic diet: 1997
75. Glucose transporter expression in brain: Relationship to cerebral glucose utilization
76. Mammalian facilitative hexose transporters mediate the transport of dehydroascorbic acid
77. Genistein is a natural inhibitor of hexose and dehydroascorbic acid transport through the glucose transporter, GLUT1
78. Direct inhibition of the hexose transporter GLUT1 by tyrosine kinase inhibitors
79. A multicenter stucy of the efficacy of the ketogenic diet
80. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome
81. GTP analogs suppress uptake but not transport of D-glucose analogs in Glut1 glucose transporter-expressing Xenopus oocytes
82. Hypoglycorrhachia: A simple clue, simply missed
83. Regulation of glucose transport by hypoxia