A cause of permanent ketosis: GLUT-1 deficiency

JIMD Reports

Volumn 18, Issue , 2015, Pages 79-83

  Chenouard, Alexis ^a   Vuillaumier Barrot, Sandrine ^b   Seta, Nathalie ^b   Kuster, Alice ^a  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b BICHAT HOSPITAL   (France)

Author keywords

Ketogenic diet; Ketone body; Ketone body production; Organic acidemia; SLC2A1 gene

Indexed keywords

EID: 84946786757     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_352     Document Type: Chapter

References (20)

1. Brockmann K, Wang D, Korenke CG et al (2001) Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 50:476–485
2. Canis M, Maurer MH, Kuschinsky W, Duembgen L, Duelli R (2009) Increased densities of monocarboxylate transporter MCT1 after chronic hyperglycemia in rat brain. Brain Res 1257:32–39
3. 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
4. Dwyer DS, Vannucci SJ, Simpson IA (2002) Expression, regulation, and functional role of glucose transporters (GLUTs) in brain. Int Rev Neurobiol 51:159–188
5. Fung C, Devaskar SU (2006) Nutrient regulation in brain development: glucose and alternate fuels. In: Thureen PJ, Hay WW (eds) Neonatal nutrition and metabolism. Cambridge University Press, New York, pp 91–103
6. Klepper J (2008) Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 49(Suppl 8):46–49
7. Klepper J, Willemsen M, Verrips A et al (2001) Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 10:63–68
8. Leen WG, Klepper J, Verbeek MM et al (2010) Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 133:655–670
9. Leino RL, Gerhart DZ, Drewes LR (1999) Monocarboxylate transporter (MCT1) abundance in brains of suckling and adult rats: a quantitative electron microscopic immunogold study. Dev Brain Res 113:47–54
10. Marin-Valencia I, Good LB, Ma Q et al (2012) Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Neurobiol Dis 48:92–101
11. Mueckler M, Caruso C, Baldwin SA et al (1985) Sequence and structure of a human glucose transporter. Science 229:941–945
12. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC (2013) Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep 13:342
13. Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC (2010) The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 25:275–281
14. Rotstein M, Engelstad K, Yang H et al (2010) Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol 68:955–958
15. Sass JO (2012) Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis 35:23–28
16. Saudubray J (2012) Clinical approach to inborn errors of metabolism in paediatrics. In: Saudubray JM, van den Berghe G, Walter JH (eds) Inborn metabolic diseases, 5th edn. Springer-Verlag, Berlin, Heidelberg, pp 3–54
17. Seidner G, Alvarez MG, Yeh JI et al (1998) GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 18:188–191
18. Vannucci SJ, Simpson IA (2003) Developmental switch in brain nutrient transporter expression in the rat. Am J Physiol Endocrinol Metab 285:E1127–E1134
19. Wang D, Pascual JM, Yang H et al (2005) Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 57:111–118
20. Zhang Y, Kuang Y, Xu K et al (2013) Ketosis proportionately spares glucose utilization in brain. J Cereb Blood Flow Metab 33:1307–1311