GLUT1 deficiency syndrome - 2007 update

Developmental Medicine and Child Neurology

Volumn 49, Issue 9, 2007, Pages 707-716

  Klepper, Joerg ^a   Leiendecker, Baerbel ^b  

^a KLINIKUM ASCHAFFENBURG   (Germany)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; GLUCOSE; GLUCOSE TRANSPORTER 1;

ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; BIOCHEMISTRY; BRAIN DISEASE; CEREBROSPINAL FLUID; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DYSTONIA; ELECTROENCEPHALOGRAM; EPILEPSY; FOOD INTAKE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRACTABLE EPILEPSY; KETOACIDOSIS; KETOGENIC DIET; MICROCEPHALY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; PUBERTY; REVIEW; SEIZURE; SPASTICITY; SPEECH DISORDER;

ANIMALS; CHILD; DEVELOPMENTAL DISABILITIES; DISEASE MODELS, ANIMAL; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENOTYPE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; KETOSIS; MOTOR SKILLS DISORDERS; MUTATION; PHENOTYPE; PROGNOSIS; SEVERITY OF ILLNESS INDEX; SYNDROME;

EID: 34548242739     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2007.00707.x     Document Type: Review

References (97)

1. De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. (1991) Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325: 703-709.
2. Klepper J, Garcia-Alvarez M, O'Driscoll KR, Parides MK, Wang D, Ho YY, De Vivo DC. (1999) Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome. J Clin Lab Anal 13: 116-121.
3. Klepper J, Wang D, Fischbarg J, Vera JC, Jarjour IT, O'Driscoll KR, De Vivo DC. (1999) Defective glucose transport across brain tissue barriers: A newly recognized neurological syndrome. Neurochem Res 24: 587-594.
4. Seidner G, Alvarez MG, Yeh JI, O'Driscoll KR, Klepper J, Stump TS, Wang D, Spinner NB, Birnbaum MJ, De Vivo DC. (1998) GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 18: 188-191.
5. Wang D, Kranz-Eble P, De Vivo DC. (2000) Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat 16: 224-231.
6. De Vivo DC, Leary L, Wang D. (2002) Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol 17: 3S15-25.
7. De Vivo DC, Wang D, Pascual JM. (2003) Disorders of glucose transport. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ, editors. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. Philadelphia: Butterworth-Heinemann. p 625-634.
8. De Vivo DC, Wang D, Pascual JM, Ho YY. (2002) Glucose transporter protein syndromes. Int Rev Neurobiol 51: 259-288.
9. Klepper J. (2004) Impaired glucose transport into the brain: The expanding spectrum of glucose transporter type 1 deficiency syndrome. Curr Opin Neurol 17: 193-196.
10. Klepper J, Voit T. (2002) Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: Impaired glucose transport into brain - a review. Eur J Pediatr 161: 295-304.
11. Pascual JM, Wang D, Lecumberri B, Yang H, Mao X, Yang R, De Vivo DC. (2004) GLUT1 deficiency and other glucose transporter diseases. Eur J Endocrinol 150: 627-633.
12. Coman DJ, Sinclair KG, Burke CJ, Appleton DB, Pelekanos JT, O'Neil CM, Wallace GB, Bowling FG, Wang D, De Vivo DC, McGill JJ. (2006) Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome. J Paediatr Child Health 42: 263-267.
13. Wang D, Pascual JM, Yang H, Engelstad K, Jhung S, Sun R P, De Vivo DC. (2005) Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects. Ann Neurol 57: 111-118.
14. Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, Hertzberg C, Nake A, Voit T, Willemsen MA. (2005) Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: A 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics 36: 302-308.
15. Oby E, Janigro D. (2006) The blood-brain barrier and epilepsy. Epilepsia 47: 1761-1774.
16. Morris AA. (2005) Cerebral ketone body metabolism. J Inherit Metab Dis 28: 109-121.
17. Guo X, Geng M, Du G. (2005) Glucose transporter 1, distribution in the brain and in neural disorders: Its relationship with transport of neuroactive drugs through the blood-brain barrier. Biochem Genet 43: 175-187.
18. Joost H-G. (2001) The extended GLUT1-family of sugar/polyol transport facilitators - nomenclature, sequence characteristics, and potential function of its novel members. Molecular Membrane Biology 18: 247-256.
19. Hruz P W, Mueckler MM. (2001) Structural analysis of the GLUT1 facilitative glucose transporter (review). Mol Membr Biol 18: 183-193.
20. Wong HY, Law PY, Ho YY. (2006) Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. Mol Genet Metab 90: 193-198.
21. Klepper J, Salas-Burgos A, Gertsen E, Fischbarg J. (2005) Bench meets bedside: A 10-year-old girl and amino acid residue glycine 75 of the facilitative glucose transporter GLUT1. Biochemistry 44: 12621-12626.
22. Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun R P, Swaroop KM, Fischbarg J, De Vivo DC. (2003) Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency. J Biol Chem 278: 49015-49021.
23. Lange P, Gertsen E, Monden I, Klepper J, Keller K. (2003) Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene. FEBS Lett 555: 274-278.
24. Iserovich P, Wang D, Ma L, Yang H, Zuniga FA, Pascual JM, Kuang K, De Vivo DC, Fischbarg J. (2002) Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer. J Biol Chem 277: 30991-30997.
25. Klepper J, Willemsen M, Verrips A, Guertsen E, Herrmann R, Kutzick C, Florcken A, Voit T. (2001) Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 10: 63-68.
26. Klepper J, Monden I, Guertsen E, Voit T, Willemsen M, Keller K. (2001) Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene. FEBS Lett 498: 104-109.
27. Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, et al. (2001) Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 50: 476-485.
28. Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, Yoo J, Noebels JL, De Vivo DC. (2006) A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet 15: 1169-1179.
29. Ohtsuki S, Kikkawa T, Hori S, Terasaki T. (2006) Modulation and compensation of the mRNA expression of energy related transporters in the brain of glucose transporter 1-deficient mice. Biol Pharm Bull 29: 1587-1591.
30. Jensen PJ, Gitlin JD, Carayannopoulos MO. (2006) GLUT1 deficiency links nutrient availability and apoptosis during embryonic development. J Biol Chem 281: 13382-13387.
31. Park JL, Heilig C W, Brosius FC, 3rd. (2004) GLUT1-deficient mice exhibit impaired endothelium-dependent vascular relaxation. Eur J Pharmacol 496: 213-214.
32. Heilig C W, Saunders T, Brosius FC, 3rd, Moley K, Heilig K, Baggs R, Guo L, Conner D. (2003) Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy. Proc Natl Acad Sci U S A 100: 15613-15618.
33. Mueckler M, Hresko RC, Sato M. (1997) Structure, function and biosynthesis of GLUT1. Biochem Soc Trans 25: 951-954.
34. Fukumoto H, Seino S, Imura H, Seino Y, Bell GI. (1988) Characterization and expression of human HepG2/erythrocyte glucose-transporter gene. Diabetes 37: 657-661.
35. Mueckler M, Caruso C, Baldwin SA, Panico M, Blench I, Morris HR, Allard WJ, Lienhard GE, Lodish HF. (1985) Sequence and structure of a human glucose transporter. Science 229: 941-945.
36. Zeller K, Rahner-Welsch S, Kuschinsky W. (1997) Distribution of Glut1 glucose transporters in different brain structures compared to glucose utilization and capillary density of adult rat brains. J Cereb Blood Flow Metab 17: 204-209.
37. Maher F, Vannucci SJ, Simpson IA. (1994) Glucose transporter proteins in brain. Faseb J 8: 1003-1011.
38. Kumagai AK, Dwyer KJ, Pardridge WM. (1994) Differential glycosylation of the GLUT1 glucose transporter in brain capillaries and choroid plexus. Biochim Biophys Acta 1193: 24-30.
39. Redzic ZB, Segal MB. (2004) The structure of the choroid plexus and the physiology of the choroid plexus epithelium. Advanced Drug Delivery Reviews 56: 1695-1716.
40. Alisio A, Mueckler M. (2004) Relative proximity and orientation of helices 4 and 8 of the GLUT1 glucose transporter. J Biol Chem 279: 26540-26545.
41. Hruz P W, Mueckler MM. (1999) Cysteine-scanning mutagenesis of transmembrane segment 7 of the GLUT1 glucose transporter. J Biol Chem 274: 36176-36180.
42. Monden I, Olsowski A, Krause G, Keller K. (2001) The large cytoplasmic loop of the glucose transporter GLUT1 is an essential structural element for function. Biol Chem 382: 1551-1558.
43. Mueckler M, Makepeace C. (1999) Transmembrane segment 5 of the Glut1 glucose transporter is an amphipathic helix that forms part of the sugar permeation pathway. J Biol Chem 274: 10923-10926.
44. Mueckler M, Makepeace C. (2002) Analysis of transmembrane segment 10 of the Glut1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility. J Biol Chem 277: 3498-3503.
45. Mueckler M, Makepeace C. (2004) Analysis of transmembrane segment 8 of the GLUT1 glucose transporter by cysteine-scanning mutagenesis and substituted cysteine accessibility. J Biol Chem 279: 10494-10499.
46. Mueckler M, Makepeace C. (2005) Cysteine-scanning mutagenesis and substituted cysteine accessibility analysis of transmembrane segment 4 of the Glut1 glucose transporter. J Biol Chem 280: 39562-39568.
47. Mueckler M, Makepeace C. (2006) Transmembrane segment 12 of the glut1 glucose transporter is an outer helix and is not directly involved in the transport mechanism. J Biol Chem 281: 36993-36998.
48. Mueckler M, Roach W, Makepeace C. (2004) Transmembrane segment 3 of the Glut1 glucose transporter is an outer helix. J Biol Chem 279: 46876-46881.
49. Olsowski A, Monden I, Krause G, Keller K. (2000) Cysteine scanning mutagenesis of helices 2 and 7 in GLUT1 identifies an exofacial cleft in both transmembrane segments. Biochemistry 39: 2469-2474.
50. Hirai T, Heymann JA, Maloney PC, Subramaniam S. (2003) Structural model for 12-helix transporters belonging to the major facilitator superfamily. J Bacteriol 185: 1712-1718.
51. Salas-Burgos A, Iserovich P, Zuniga F, Vera JC, Fischbarg J. (2004) Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecules. Biophys J 87: 2990-2999.
52. Zuniga FA, Shi G, Haller JF, Rubashkin A, Flynn DR, Iserovich P, Fischbarg J. (2001) A three-dimensional model of the human facilitative glucose transporter Glut1. J Biol Chem 276: 44970-44975.
53. Fishman R. (1992) Cerebrospinal Fluid in Diseases of the Nervous System. Philadelphia: W.B. Saunders Company.
54. Lachenal F, Cotton F, Desmurs-Clavel H, Haroche J, Taillia H, Magy N, Hamidou M, Salvatierra J, Piette JC, Vital-Durand D, Rousset H. (2006) Neurological manifestations and neuroradiological presentation of Erdheim-Chester disease: Report of 6 cases and systematic review of the literature. J Neurol 253: 1267-1277.
55. Boles RG, Seashore MR, Mitchell WG, Kollros PR, Mofidi S, Novotny EJ. (1999) Glucose transporter type 1 deficiency: A study of two cases with video-EEG. Eur J Pediatr 158: 978-983.
56. Leary LD, Wang D, Nordli DR, Engelstad K, De Vivo DC. (2003) Seizure characterization and electroencephalographic features in glut-1 deficiency syndrome. Epilepsia 44: 701-707.
57. von Moers A, Brockmann K, Wang D, Korenke CG, Huppke P, De Vivo DC, Hanefeld F. (2002) EEG features of glut-1 deficiency syndrome. Epilepsia 43: 941-945.
58. Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. (2002) Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol 52: 458-464.
59. Klepper J, Diefenbach S, Kohlschutter A, Voit T. (2004) Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukot Essent Fatty Acids 70: 321-327.
60. Hennecke M, Wang D, Korinthenberg R, Pascual JM, Yang H, Engelstad K, Brockmann K, De Vivo DC, Gärtner J. (2005) GLUT1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins (ab). Neuropediatrics 36: 140.
61. Overweg-Plandsoen WC, Groener JE, Wang D, Onkenhout W, Brouwer OF, Bakker HD, De Vivo DC. (2003) GLUT-1 deficiency without epilepsy-an exceptional case. J Inherit Metab Dis 26: 559-563.
62. Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer HH, De Vivo DC, Carruthers A, Natowicz MR. (2006) Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord 21: 241-245.
63. Klepper J, De Vivo DC, Webb D W, Klinge L, Voit T. (2003) Reversible infantile hypoglycorrhachia: Possible transient disturbance in glucose transport ? Pediatr Neurol 29: 321-325.
64. Ho YY, Wang D, Hinton V, Yang H, Vasilescu A, Engelstad K, Jhung S, Hanson KK, Wolff JA, De Vivo DC. (2001) Glut-1 deficiency syndrome: autosomal dominant transmission of the R126C missense mutation (Abstract). Ann Neurol 50: S125.
65. Willemsen MA, Verrips A, Verbeek MM, Voit T, Klepper J. (2001) Hypoglycorrhachia: A simple clue, simply missed. Ann Neurol 49: 685-686.
66. Klepper J, Leiendecker B, Bredahl R, Athanassopoulos S, Heinen F, Gertsen E, Florcken A, Metz A, Voit T. (2002) Introduction of a ketogenic diet in young infants. J Inherit Metab Dis 25: 449-460.
67. Kielb S, Koo H P, Bloom DA, Faerber GJ. (2000) Nephrolithiasis associated with the ketogenic diet. J Urol 164: 464-466.
68. Stewart WA, Gordon K, Camfield P. (2001) Acute pancreatitis causing death in a child on the ketogenic diet. J Child Neurol 16: 682.
69. Best TH, Franz DN, Gilbert DL, Nelson D P, Epstein MR. (2000) Cardiac complications in pediatric patients on the ketogenic diet. Neurology 54: 2328-2330.
70. Berry-Kravis E, Booth G, Taylor A, Valentino LA. (2001) Bruising and the ketogenic diet: Evidence for diet-induced changes in platelet function. Ann Neurol 49: 98-103.
71. Hoyt CS, Billson FA. (1979) Optic neuropathy in ketogenic diet. Br J Ophthalmol 63: 191-194.
72. Groesbeck DK, Bluml RM, Kossoff EH. (2006) Long-term use of the ketogenic diet in the treatment of epilepsy. Dev Med Child Neurol 48: 978-981.
73. Nordli D. (2002) The ketogenic diet: Uses and abuses. Neurology 58: S21-24.
74. Hemingway C, Freeman JM, Pillas DJ, Pyzik PL. (2001) The ketogenic diet: a 3- to 6-year follow-up of 150 children enrolled prospectively. Pediatrics 108: 898-905.
75. Freeman JM. (2001) The ketogenic diet and epilepsy. Nestle Nutr Workshop Ser Clin Perform Programme: 307-318.
76. Fraser DD, Whiting S, Andrew RD, Macdonald EA, Musa-Veloso K, Cunnane SC. (2003) Elevated polyunsaturated fatty acids in blood serum obtained from children on the ketogenic diet. Neurology 60: 1026-1029.
77. Fuehrlein BS, Rutenberg MS, Silver JN, Warren M W, Theriaque D W, Duncan GE, Stacpoole P W, Brantly ML. (2004) Differential metabolic effects of saturated versus polyunsaturated fats in ketogenic diets. J Clin Endocrinol Metab 89: 1641-1645.
78. Kwiterovich PO, Jr., Vining EP, Pyzik P, Skolasky R, Jr., Freeman JM. (2003) Effect of a high-fat ketogenic diet on plasma levels of lipids, lipoproteins, and apolipoproteins in children. JAMA 290: 912-920.
79. Sharman MJ, Kraemer WJ, Love DM, Avery NG, Gomez AL, Scheett T P, Volek JS. (2002) A ketogenic diet favorably affects serum biomarkers for cardiovascular disease in normal-weight men. J Nutr 132: 1879-1885.
80. Ho YY, Yang H, Klepper J, Fischbarg J, Wang D, De Vivo DC. (2001) Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. Pediatr Res 50: 254-260.
81. Klepper J, Florcken A, Fischbarg J, Voit T. (2003) Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro. Eur J Pediatr 162: 84-89.
82. Hebert DN, Carruthers A. (1992) Glucose transporter oligomeric structure determines transporter function. Reversible redox-dependent interconversions of tetrameric and dimeric GLUT1. J Biol Chem 267: 23829-23838.
83. Klepper J, Fischbarg J, Vera JC, Wang D, De Vivo DC. (1999) GLUT1-deficiency: Barbiturates potentiate haploinsufficiency in vitro. Pediatr Res 46: 677-683.
84. Cornford EM, Hyman S, Cornford ME, Caron MJ. (1996) Glut1 glucose transporter activity in human brain injury. J Neurotrauma 13: 523-536.
85. Gasior M, Rogawski MA, Hartman AL. (2006) Neuroprotective and disease-modifying effects of the ketogenic diet. Behav Pharmacol 17: 431-439.
86. Scheepers A, Joost HG, Schurmann A. (2004) The glucose transporter families SGLT and GLUT: Molecular basis of normal and aberrant function. JPEN J Parenter Enteral Nutr 28: 364-371.
87. Qutub AA, Hunt CA. (2005) Glucose transport to the brain: A systems model. Brain Res Brain Res Rev 49: 595-617.
88. Kc S, Carcamo JM, Golde D W. (2005) Vitamin C enters mitochondria via facilitative glucose transporter 1 (Glut1) and confers mitochondrial protection against oxidative injury. FA SEB Journal 19: 1657-1667.
89. Fujii T, Ho Y Y, Wang D, De Vivo DC, Miyajima T, Wong HY, Tsang PT, Shirasaka Y, Kudo T, Ito M. (2007) Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain Dev 29: 92-97.
90. Ito Y, Gertsen E, Oguni H, Nakayama T, Matsuo M, Funatsuka M, Voit T, Klepper J, Osawa M. (2005) Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan. Brain Dev 27: 311-317.
91. Brockmann K, Korenke GC, von Moers A, Weise D, Klepper J, De Vivo DC, Hanefeld F. (2000) Epilepsy with seizures after fasting and retardation - the first familial cases of glucose transporter protein (GLUT1) deficiency (Abstract). European Journal of Paediatric Neurology 4: 100.
92. Gordon N, Newton R W. (2003) Glucose transporter type1 (GLUT-1) deficiency. Brain Dev 25: 477-480.
93. Goyens P, De Laet C, Ranguelov N, Ferreiro C, Robert M, Dan B. (2002) Pitfalls of ketogenic diet in a neonate. Pediatrics 109: 1185-1186.
94. Kollros PR, Konkle BA. (1992) A candidate mutation in the GLUT1-gene in a patient with glucose transporter dysfunction at the blood-brain barrier (Abstract). Ann Neurol 32: 454.
95. Wang D, Ho YY, Pascual JM, Hinton V, Yang H, Anolik M, Kranz-Eble P, Jhung S, Engelstad K, De Vivo DC. (2001) Glut-1 deficiency syndrome: R333W genotype and paternal mosaicism (Abstract). Ann Neurol 50: S124.
96. Wang D, Pascual JM, Ho YY, Hinton V, Yang H, Engelstad K, Jhung S, Kranz-Eble P, De Vivo DC. (2001) Glut-1 deficiency syndrome: A severe phenotype associated with compound heterozygosity in trans (Abstract). Ann Neurol 50: S125.
97. Hruz P W, Mueckler MM. (2001) Structural analysis of the GLUT1 facilitative glucose transporter (review). Mol Membr Biol 18: 183-193.