MCID: GLC024
MIFTS: 35

Glucose Transporter Type 1 Deficiency Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Glucose Transporter Type 1 Deficiency Syndrome

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Aliases & Descriptions for Glucose Transporter Type 1 Deficiency Syndrome:

Name: Glucose Transporter Type 1 Deficiency Syndrome 22 46 23 24
Glucose Transporter Protein Syndrome 22 46 23 24
De Vivo Disease 22 46 23 24
Glut-1 Deficiency Syndrome 22 46 23
Glut1 Deficiency Syndrome 46 24 66
Glucose Transport Defect, Blood-Brain Barrier 46 24
Encephalopathy Due to Glut1 Deficiency 46 24
 
Glut1-Ds 22 23
Glut1 Ds 46 24
G1d 46 24
Glucose Transporter Type 1 Deficiency 25
Glut1 Deficiency 24
Gtps 24

Classifications:



Summaries for Glucose Transporter Type 1 Deficiency Syndrome

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Genetics Home Reference:24 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).

MalaCards based summary: Glucose Transporter Type 1 Deficiency Syndrome, also known as glucose transporter protein syndrome, is related to gtp cyclohydrolase i deficiency and gtp cyclohydrolase 1-deficient dopa-responsive dystonia, and has symptoms including ataxia, ataxia and muscle spasticity. An important gene associated with Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain and eye.

NIH Rare Diseases:46 Glucose transporter type 1 deficiency syndrome (glut1 deficiency syndrome) is an inherited condition that affects the nervous system. signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. approximately 10% of affected people have the "non-epileptic" form of glut1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. glut1 deficiency syndrome is caused by changes (mutations) in the slc2a1 gene and is inherited in an autosomal dominant manner. although there is currently no cure for glut1 deficiency syndrome, a special diet (called a ketogenic diet) may help alleviate symptoms. last updated: 12/7/2015

GeneReviews summary for NBK1430

Related Diseases for Glucose Transporter Type 1 Deficiency Syndrome

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Graphical network of the top 20 diseases related to Glucose Transporter Type 1 Deficiency Syndrome:



Diseases related to glucose transporter type 1 deficiency syndrome

Symptoms for Glucose Transporter Type 1 Deficiency Syndrome

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UMLS symptoms related to Glucose Transporter Type 1 Deficiency Syndrome:


ataxia, muscle spasticity, sleep disturbances, dystonia, paroxysmal

Drugs & Therapeutics for Glucose Transporter Type 1 Deficiency Syndrome

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Drugs for Glucose Transporter Type 1 Deficiency Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlycerolPhase 221056-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin,anhydrous
Glycerine
Glycerinum
Glyceritol
 
Glycerol
Glycerol 85%
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2
BenzocainePhase 1, Phase 217941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
3tannic acidNutraceuticalPhase 1, Phase 21794
4
Citric AcidPhase 1106377-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
5CitrateNutraceuticalPhase 11063

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency SyndromeRecruitingNCT02036853Phase 2
2Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DSRecruitingNCT02014883Phase 2
3Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)Active, not recruitingNCT01993186Phase 2
4Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency SyndromeActive, not recruitingNCT02000960Phase 2
5Study to Assess the Long Term Safety and Efficacy of UX007 in Subjects With Glucose Type 1 DSEnrolling by invitationNCT02599961Phase 2
6Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D)Not yet recruitingNCT02021526Phase 1, Phase 2
7Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)Active, not recruitingNCT02018315Phase 1
8Post Study Continuation of C7 for G1DAvailableNCT02018302Phase 1
9Evaluation of Keyo in Children With EpilepsyCompletedNCT02915211
10The Glucose Transporter Type I Deficiency (G1D) RegistryRecruitingNCT02013583
11Triheptanoin (UX007) to Treat Citrate Transporter DeficiencyNo longer availableNCT02500082

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Genetic Tests for Glucose Transporter Type 1 Deficiency Syndrome

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Genetic tests related to Glucose Transporter Type 1 Deficiency Syndrome:

id Genetic test Affiliating Genes
1 Glucose Transporter Type 1 Deficiency Syndrome25 23 SLC2A1

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

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MalaCards organs/tissues related to Glucose Transporter Type 1 Deficiency Syndrome:

34
Brain, Eye

Animal Models for Glucose Transporter Type 1 Deficiency Syndrome or affiliated genes

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Publications for Glucose Transporter Type 1 Deficiency Syndrome

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Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show all 15)
idTitleAuthorsYear
1
Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome. (27445040)
2016
2
Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome. (27273526)
2016
3
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome. (26615362)
2015
4
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. (24200040)
2014
5
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). (23443458)
2013
6
Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet. (23888468)
2013
7
Milder phenotypes of glucose transporter type 1 deficiency syndrome. (21649651)
2011
8
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. (21501156)
2011
9
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. (21838819)
2011
10
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness. (21212456)
2011
11
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. (17869467)
2008
12
Three Japanese patients with glucose transporter type 1 deficiency syndrome. (16949238)
2007
13
Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. (15021248)
2004
14
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. (11477212)
2001
15
Glucose Transporter Type 1 Deficiency Syndrome (20301603)
1993

Variations for Glucose Transporter Type 1 Deficiency Syndrome

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Clinvar genetic disease variations for Glucose Transporter Type 1 Deficiency Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC2A1NM_006516.2(SLC2A1): c.377G> A (p.Arg126His)single nucleotide variantPathogenicrs80359816GRCh37Chr 1, 43396436: 43396436
2SLC2A1NM_006516.2(SLC2A1): c.940G> A (p.Gly314Ser)single nucleotide variantPathogenicrs121909739GRCh37Chr 1, 43394913: 43394913
3SLC2A1NM_006516.2(SLC2A1): c.376C> T (p.Arg126Cys)single nucleotide variantPathogenicrs80359818GRCh37Chr 1, 43396437: 43396437
4SLC2A1NM_006516.2(SLC2A1): c.980_981delTG (p.Val327Glyfs)deletionPathogenicrs80359838GRCh37Chr 1, 43394696: 43394697

Copy number variations for Glucose Transporter Type 1 Deficiency Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13279613960000043900000DeletionfacilitatedGLUT1 deficiency syndrome
23279713960000043900000DeletiongeneGLUT1 deficiency syndrome
33279813960000043900000DeletionglucoseGLUT1 deficiency syndrome
43279913960000043900000DeletionhumanGLUT1 deficiency syndrome
53280013960000043900000DeletiontransporterGLUT1 deficiency syndrome

Expression for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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Search GEO for disease gene expression data for Glucose Transporter Type 1 Deficiency Syndrome.

Pathways for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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GO Terms for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

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Sources for Glucose Transporter Type 1 Deficiency Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet