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Glucose transporter type 1 deficiency syndrome(GLUT1DS1)

MedGen UID:
337833
Concept ID:
C1847501
Disease or Syndrome
Synonyms: GLUT-1 deficiency syndrome; GLUT1DS1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Related gene: SLC2A1
OMIM®: 606777
OMIM® Phenotypic series: PS606777
Orphanet: ORPHA71277

Definition

GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome. These individuals generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. Babies with common GLUT1 deficiency syndrome have a normal head size at birth, but growth of the brain and skull is often slow, which can result in an abnormally small head size (microcephaly). People with this form of GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of confusion, lack of energy (lethargy), headaches, or muscle twitches (myoclonus), particularly during periods without food (fasting).About 10 percent of individuals with GLUT1 deficiency syndrome have a form of the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or involuntary tensing of various muscles (dystonia); the movement problems may be more pronounced than in the common form.Several conditions that were originally given other names have since been recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 deficiency syndrome produce abnormal red blood cells and have uncommon forms of a blood condition known as anemia, which is characterized by a shortage of red blood cells.
[from GHR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Glucose transporter type 1 deficiency syndrome in Orphanet.

Recent clinical studies

Etiology

Amalou S, Gras D, Ilea A, Greneche MO, Francois L, Bellavoine V, Delanoe C, Auvin S
Dev Med Child Neurol 2016 Nov;58(11):1193-1199. Epub 2016 Jun 8 doi: 10.1111/dmcn.13167. PMID: 27273526
De Giorgis V, Varesio C, Baldassari C, Piazza E, Olivotto S, Macasaet J, Balottin U, Veggiotti P
J Child Neurol 2016 Aug;31(9):1174-80. Epub 2016 Jun 1 doi: 10.1177/0883073816650033. PMID: 27250207
Thouin A, Crompton DE
Pract Neurol 2016 Feb;16(1):50-2. Epub 2015 Sep 3 doi: 10.1136/practneurol-2015-001194. PMID: 26336901
Liu Y, Bao X, Wang D, Fu N, Zhang X, Cao G, Song F, Wang S, Zhang Y, Qin J, Yang H, Engelstad K, De Vivo DC, Wu X
Pediatr Neurol 2012 Jul;47(1):30-4. doi: 10.1016/j.pediatrneurol.2012.04.010. PMID: 22704013
Ho YY, Yang H, Klepper J, Fischbarg J, Wang D, De Vivo DC
Pediatr Res 2001 Aug;50(2):254-60. doi: 10.1203/00006450-200108000-00015. PMID: 11477212

Diagnosis

Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F
Ann Neurol 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970. PMID: 28556183Free PMC Article
Amalou S, Gras D, Ilea A, Greneche MO, Francois L, Bellavoine V, Delanoe C, Auvin S
Dev Med Child Neurol 2016 Nov;58(11):1193-1199. Epub 2016 Jun 8 doi: 10.1111/dmcn.13167. PMID: 27273526
Ohshiro-Sasaki A, Shimbo H, Takano K, Wada T, Osaka H
Pediatr Neurol 2014 Jan;50(1):99-100. Epub 2013 Nov 5 doi: 10.1016/j.pediatrneurol.2013.09.002. PMID: 24200040
Koy A, Assmann B, Klepper J, Mayatepek E
Dev Med Child Neurol 2011 Dec;53(12):1154-6. Epub 2011 Aug 12 doi: 10.1111/j.1469-8749.2011.04082.x. PMID: 21838819
Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T
Dev Med Child Neurol 2011 Jul;53(7):664-8. Epub 2011 Mar 24 doi: 10.1111/j.1469-8749.2011.03949.x. PMID: 21649651

Therapy

Yoshida T, Shimizu K, Suzuki S, Matsuoka Y, Morimatsu H
A A Pract 2018 Jul 15;11(2):35-37. doi: 10.1213/XAA.0000000000000727. PMID: 29634559
Gras D, Roze E, Caillet S, Méneret A, Doummar D, Billette de Villemeur T, Vidailhet M, Mochel F
Rev Neurol (Paris) 2014 Feb;170(2):91-9. Epub 2013 Nov 20 doi: 10.1016/j.neurol.2013.09.005. PMID: 24269118
Shiohama T, Fujii K, Takahashi S, Nakamura F, Kohno Y
Pediatr Neurol 2013 Dec;49(6):493-6. Epub 2013 Sep 27 doi: 10.1016/j.pediatrneurol.2013.06.004. PMID: 24080273
Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC
Curr Neurol Neurosci Rep 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. PMID: 23443458
Ito Y, Oguni H, Ito S, Oguni M, Osawa M
Dev Med Child Neurol 2011 Jul;53(7):658-63. Epub 2011 Apr 18 doi: 10.1111/j.1469-8749.2011.03961.x. PMID: 21501156

Prognosis

Schoeler NE, Leu C, Balestrini S, Mudge JM, Steward CA, Frankish A, Leung MA, Mackay M, Scheffer I, Williams R, Sander JW, Cross JH, Sisodiya SM
Epilepsia 2018 Aug;59(8):1557-1566. Epub 2018 Jul 16 doi: 10.1111/epi.14516. PMID: 30009487Free PMC Article
Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK
Epilepsy Behav 2017 May;70(Pt A):1-4. Epub 2017 Apr 10 doi: 10.1016/j.yebeh.2017.02.016. PMID: 28407523
Schoeler NE, Leu C, White J, Plagnol V, Ellard S, Matarin M, Yellen G, Thiele EA, Mackay M, McMahon JM, Scheffer IE, Sander JW, Cross JH, Sisodiya SM
Epilepsy Res 2015 Dec;118:22-8. Epub 2015 Oct 24 doi: 10.1016/j.eplepsyres.2015.10.003. PMID: 26590798Free PMC Article
Ito Y, Takahashi S, Kagitani-Shimono K, Natsume J, Yanagihara K, Fujii T, Oguni H
Brain Dev 2015 Sep;37(8):780-9. Epub 2014 Dec 5 doi: 10.1016/j.braindev.2014.11.006. PMID: 25487684
Liu Y, Bao X, Wang D, Fu N, Zhang X, Cao G, Song F, Wang S, Zhang Y, Qin J, Yang H, Engelstad K, De Vivo DC, Wu X
Pediatr Neurol 2012 Jul;47(1):30-4. doi: 10.1016/j.pediatrneurol.2012.04.010. PMID: 22704013

Clinical prediction guides

Schoeler NE, Leu C, Balestrini S, Mudge JM, Steward CA, Frankish A, Leung MA, Mackay M, Scheffer I, Williams R, Sander JW, Cross JH, Sisodiya SM
Epilepsia 2018 Aug;59(8):1557-1566. Epub 2018 Jul 16 doi: 10.1111/epi.14516. PMID: 30009487Free PMC Article
Schoeler NE, Leu C, White J, Plagnol V, Ellard S, Matarin M, Yellen G, Thiele EA, Mackay M, McMahon JM, Scheffer IE, Sander JW, Cross JH, Sisodiya SM
Epilepsy Res 2015 Dec;118:22-8. Epub 2015 Oct 24 doi: 10.1016/j.eplepsyres.2015.10.003. PMID: 26590798Free PMC Article
Schoeler NE, Cross JH, Drury S, Lench N, McMahon JM, MacKay MT, Scheffer IE, Sander JW, Sisodiya SM
Dev Med Child Neurol 2015 Oct;57(10):969-76. Epub 2015 Apr 23 doi: 10.1111/dmcn.12781. PMID: 25914049
Haberlandt E, Karall D, Jud V, Baumgartner SS, Zotter S, Rostasy K, Baumann M, Scholl-Buergi S
Neuropediatrics 2014 Apr;45(2):117-9. Epub 2013 Jul 25 doi: 10.1055/s-0033-1349225. PMID: 23888468
Liu Y, Bao X, Wang D, Fu N, Zhang X, Cao G, Song F, Wang S, Zhang Y, Qin J, Yang H, Engelstad K, De Vivo DC, Wu X
Pediatr Neurol 2012 Jul;47(1):30-4. doi: 10.1016/j.pediatrneurol.2012.04.010. PMID: 22704013

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