T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake

Brain and Development

Volumn 33, Issue 4, 2011, Pages 316-320

  Fujii, Tatsuya ^a   Morimoto, Masafumi ^b   Yoshioka, Hiroshi ^c   Ho, Yuan Yuan ^d,e   Law, Peggy P Y ^d   Wang, Dong ^e   De Vivo, Darryl C ^e  

^a SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c Yoshioka Children's Clinic   (Japan)

^d CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^e Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

3 OMG; Glucose transporter type 1 deficiency; Glut1DS; SLC2A1; T295M mutation

Indexed keywords

3 METHYLGLUCOSE; GLUCOSE; GLUCOSE TRANSPORTER 1;

ADOLESCENT; ARTICLE; ATAXIA; BLOOD BRAIN BARRIER; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; CONTROLLED STUDY; CONVULSION; DEVELOPMENTAL DISORDER; ENDOTHELIUM CELL; ERYTHROCYTE; FEMALE; GENE; GENE MUTATION; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; GLUT1 GENE; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MALE; MICROCEPHALY; PHENOTYPE; PROTEIN EXPRESSION; SEIZURE; SPASTICITY; SPEECH DISORDER; VASCULAR ENDOTHELIUM;

3-O-METHYLGLUCOSE; ADOLESCENT; CHILD; ERYTHROCYTES; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MALE; MUTATION; PHENOTYPE; SYNDROME;

EID: 79952312663     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.06.012     Document Type: Article

References (13)

1. 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 1991, 325:703-709.
2. De Vivo D.C., Leary L., Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol 2002, 17(Suppl. 3):S15-S23.
3. Wang D., Pascual J.M., Yang H., Engelstad K., Jhung S., Sun R.P., et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 2005, 57:111-118.
4. Fujii T., Ho Y.Y., Wang D., De Vivo D.C., Miyajima T., Wong H.Y., et al. Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain Dev 2007, 29:92-97.
5. Wang D., Yang H., Shi L., Ma L., Fujii T., Engelstad K., et al. Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. Pediatr Res 2008, 64:538-543.
6. Klepper J., Leiendecker B. GLUT1 deficiency syndrome - 2007 update. Dev Med Child Neurol 2007, 49:707-716.
7. Klepper J., Garcia-Alvarez M., O'Driscoll K.R., Parides M.K., Wang D., Ho Y.Y., 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.
8. Wang D., Kranz-Eble P., De Vivo D.C. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum Mutat 2000, 16:224-231.
9. Mueckler M., Hresko R.C., Sato M. Structure, function and biosynthesis of GLUT1. Biochem Soc Trans 1997, 25:951-954.
10. Brockmann K., Wang D., Korenke C.G., von Moers A., Ho Y.Y., Pascual J.M., et al. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 2001, 50:476-485.
11. Seidner G., Alvarez M.G., Yeh J.I., O'Driscoll K.R., Klepper J., Stump T.S., et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998, 18:188-191.
12. Friedman J.R., Thiele E.A., Wang D., Levine K.B., Cloherty E.K., Pfeifer H.H., et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord 2006, 21:241-245.
13. Klepper J., Scheffer H., Leiendecker B., Gertsen E., Binder S., Leferink M., et al. 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 2005, 36:302-308.