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GLUT1 deficiency syndrome

MedGen UID:
337833
Concept ID:
C1847501
Disease or Syndrome
Synonyms: Glucose transporter type 1 deficiency syndrome; GLUT-1 deficiency syndrome
 
Related gene: SLC2A1
 
Monarch Initiative: MONDO:0000188
OMIM®: 606777
OMIM® Phenotypic series: PS606777

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 GLUT1 deficiency syndrome in Orphanet.

Recent clinical studies

Etiology

De Amicis R, Leone A, Lessa C, Foppiani A, Ravella S, Ravasenghi S, Trentani C, Ferraris C, Veggiotti P, De Giorgis V, Tagliabue A, Battezzati A, Bertoli S
Nutrients 2019 Jul 25;11(8) doi: 10.3390/nu11081716. PMID: 31349661Free PMC Article
Bekker YAC, Lambrechts DA, Verhoeven JS, van Boxtel J, Troost C, Kamsteeg EJ, Willemsen MA, Braakman HMH
Eur J Paediatr Neurol 2019 May;23(3):404-409. Epub 2019 Feb 27 doi: 10.1016/j.ejpn.2019.02.012. PMID: 30885501
De Giorgis V, Masnada S, Varesio C, Chiappedi MA, Zanaboni M, Pasca L, Filippini M, Macasaet JA, Valente M, Ferraris C, Tagliabue A, Veggiotti P
Brain Behav 2019 Mar;9(3):e01224. Epub 2019 Feb 4 doi: 10.1002/brb3.1224. PMID: 30714351Free PMC Article
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A
Seizure 2018 Jan;54:41-44. Epub 2017 Nov 28 doi: 10.1016/j.seizure.2017.11.014. PMID: 29223885
Vaudano AE, Olivotto S, Ruggieri A, Gessaroli G, De Giorgis V, Parmeggiani A, Veggiotti P, Meletti S
Neuroimage Clin 2017;13:446-454. Epub 2016 Dec 21 doi: 10.1016/j.nicl.2016.12.026. PMID: 28116237Free PMC Article

Diagnosis

Raja M, Kinne RKH
J Membr Biol 2020 Apr;253(2):87-99. Epub 2020 Feb 5 doi: 10.1007/s00232-020-00108-3. PMID: 32025761Free PMC Article
De Amicis R, Leone A, Lessa C, Foppiani A, Ravella S, Ravasenghi S, Trentani C, Ferraris C, Veggiotti P, De Giorgis V, Tagliabue A, Battezzati A, Bertoli S
Nutrients 2019 Jul 25;11(8) doi: 10.3390/nu11081716. PMID: 31349661Free PMC Article
Dozières-Puyravel B, Zaman S, Petrou S, François L, Vuillaumier-Barrot S, Mochel F, Gras D, Auvin S
Brain Dev 2019 Oct;41(9):808-811. Epub 2019 Jun 10 doi: 10.1016/j.braindev.2019.05.008. PMID: 31196579
Kloka J, Kranepuhl S, Zacharowski K, Raimann FJ
Am J Case Rep 2019 May 5;20:647-650. doi: 10.12659/AJCR.914865. PMID: 31055589Free PMC Article
Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA
JAMA Neurol 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. PMID: 23999624

Therapy

Kloka J, Kranepuhl S, Zacharowski K, Raimann FJ
Am J Case Rep 2019 May 5;20:647-650. doi: 10.12659/AJCR.914865. PMID: 31055589Free PMC Article
Tagliabue A, Ferraris C, Uggeri F, Trentani C, Bertoli S, de Giorgis V, Veggiotti P, Elli M
Clin Nutr ESPEN 2017 Feb;17:33-37. Epub 2016 Dec 18 doi: 10.1016/j.clnesp.2016.11.003. PMID: 28361745
Fujii T, Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Oguni H
Brain Dev 2016 Aug;38(7):628-37. Epub 2016 Feb 26 doi: 10.1016/j.braindev.2016.01.002. PMID: 26923720
Leen WG, Mewasingh L, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA
Mov Disord 2013 Sep;28(10):1439-42. Epub 2013 Jun 25 doi: 10.1002/mds.25515. PMID: 23801573
Vieker S, Schmitt J, Längler A, Schmidt W, Klepper J
Neuropediatrics 2012 Oct;43(5):275-8. Epub 2012 Sep 13 doi: 10.1055/s-0032-1324399. PMID: 22976442

Prognosis

Raja M, Kinne RKH
J Membr Biol 2020 Apr;253(2):87-99. Epub 2020 Feb 5 doi: 10.1007/s00232-020-00108-3. PMID: 32025761Free PMC Article
Reis S, Matias J, Machado R, Monteiro JP
Metab Brain Dis 2018 Aug;33(4):1381-1383. Epub 2018 May 5 doi: 10.1007/s11011-018-0225-3. PMID: 29730803
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A
Seizure 2018 Jan;54:41-44. Epub 2017 Nov 28 doi: 10.1016/j.seizure.2017.11.014. PMID: 29223885
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
Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC
J Child Neurol 2015 Feb;30(2):160-9. Epub 2014 Apr 30 doi: 10.1177/0883073814531822. PMID: 24789115

Clinical prediction guides

Winczewska-Wiktor A, Hoffman-Zacharska D, Starczewska M, Kaczmarek I, Badura-Stronka M, Steinborn B
Epilepsy Behav 2020 May;106:107036. Epub 2020 Apr 1 doi: 10.1016/j.yebeh.2020.107036. PMID: 32247176
Raja M, Kinne RKH
J Membr Biol 2020 Apr;253(2):87-99. Epub 2020 Feb 5 doi: 10.1007/s00232-020-00108-3. PMID: 32025761Free PMC Article
De Amicis R, Leone A, Lessa C, Foppiani A, Ravella S, Ravasenghi S, Trentani C, Ferraris C, Veggiotti P, De Giorgis V, Tagliabue A, Battezzati A, Bertoli S
Nutrients 2019 Jul 25;11(8) doi: 10.3390/nu11081716. PMID: 31349661Free PMC Article
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A
Seizure 2018 Jan;54:41-44. Epub 2017 Nov 28 doi: 10.1016/j.seizure.2017.11.014. PMID: 29223885
Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC
J Child Neurol 2015 Feb;30(2):160-9. Epub 2014 Apr 30 doi: 10.1177/0883073814531822. PMID: 24789115

Recent systematic reviews

Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA
J Neurol 2014 Mar;261(3):589-99. Epub 2014 Jan 12 doi: 10.1007/s00415-014-7240-z. PMID: 24413642
Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA
JAMA Neurol 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. PMID: 23999624

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