MCID: GLC024
MIFTS: 29

Glucose Transporter Type 1 Deficiency Syndrome malady

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

Aliases & Classifications for Glucose Transporter Type 1 Deficiency Syndrome

About this section

Aliases & Descriptions for Glucose Transporter Type 1 Deficiency Syndrome:

Name: Glucose Transporter Type 1 Deficiency Syndrome 21 45 22 23
De Vivo Disease 21 45 22 23 51
Glucose Transporter Protein Syndrome 21 45 22 23
Glut-1 Deficiency Syndrome 21 45 22 51
Encephalopathy Due to Glut1 Deficiency 45 23 51
Glut1 Deficiency Syndrome 45 23 65
Glut1-Ds 21 22 51
 
Glucose Transport Defect, Blood-Brain Barrier 45 23
Glucose Transporter Type 1 Deficiency 51 24
Glut1 Ds 45 23
G1d 45 23
Glut1 Deficiency 23
Gtps 23

Characteristics:

Orphanet epidemiological data:

51
de vivo disease:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 71277
ICD10 via Orphanet28 G93.4
UMLS65 C1847501

Summaries for Glucose Transporter Type 1 Deficiency Syndrome

About this section
Genetics Home Reference:23 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 de vivo disease, is related to gtp cyclohydrolase i deficiency and gtp cyclohydrolase 1-deficient dopa-responsive dystonia. An important gene associated with Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, eye and colon.

NIH Rare Diseases:45 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

About this section

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

About this section

Drugs & Therapeutics for Glucose Transporter Type 1 Deficiency Syndrome

About this section

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocaineapprovedPhase 1, Phase 216841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
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
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
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]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
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
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
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
2
GlycerolexperimentalPhase 219156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
3Protective AgentsPhase 25651
4tannic acidNutraceuticalPhase 1, Phase 21684
5
Citric AcidnutraceuticalPhase 1100177-92-9311
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
6CitrateNutraceuticalPhase 11001

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)RecruitingNCT01993186Phase 2
2An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency SyndromeRecruitingNCT02036853Phase 2
3Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency SyndromeRecruitingNCT02000960Phase 2
4Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DSRecruitingNCT02014883Phase 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
9The Glucose Transporter Type I Deficiency (G1D) RegistryRecruitingNCT02013583
10Triheptanoin (UX007) to Treat Citrate Transporter DeficiencyNo longer availableNCT02500082

Search NIH Clinical Center for Glucose Transporter Type 1 Deficiency Syndrome

Genetic Tests for Glucose Transporter Type 1 Deficiency Syndrome

About this section

Genetic tests related to Glucose Transporter Type 1 Deficiency Syndrome:

id Genetic test Affiliating Genes
1 Glucose Transporter Type 1 Deficiency Syndrome22 SLC2A1

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

About this section

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

33
Brain, Eye, Colon, Ovary

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

About this section

Publications for Glucose Transporter Type 1 Deficiency Syndrome

About this section

Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show all 12)
idTitleAuthorsYear
1
Accidental discovery of asbestos-related occupational pleural disease in unemployed carpenter: a healthcare safety net that needs mending. (26444343)
2015
2
IDH1 mutations is prognostic marker for primary glioblastoma multiforme but MGMT hypermethylation is not prognostic for primary glioblastoma multiforme. (25455102)
2015
3
Vascular channels formed by subpopulations of PECAM1+ melanoma cells. (25335460)
2014
4
Ribosomal proteins RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network. (23874713)
2013
5
Balamuthia Mandrillaris Meningoencephalitis associated with Solid Organ Transplantation - Review of Cases. (24421953)
2013
6
Re: Multiple myeloma presenting as acute tubulointerstitial nephritis and normal serum protein electrophoresis. (22797107)
2012
7
Identification of the cellular receptor of Clostridium spiroforme toxin. (22252869)
2012
8
Induction of p53 contributes to apoptosis of HCT-116 human colon cancer cells induced by the dietary compound fisetin. (19264955)
2009
9
Pronounced interferon-alpha production from plasmacytoid dendritic cells in patients with BehAset's disease following CpG D ODN stimulation. (19796531)
2009
10
Retinal telangiectasis in adults: fluorescein angiographic findings and treatment by argon laser. (565649)
1978
11
Dimethyl sulfoxide in the treatment of experimental brain compression. (4197201)
1973
12
Sympathicotropic (Leydig) cell tumor of the ovary with virilism; report of a case. (18151104)
1949

Variations for Glucose Transporter Type 1 Deficiency Syndrome

About this section

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

Expression for genes affiliated with Glucose Transporter Type 1 Deficiency Syndrome

About this section
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

About this section

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

About this section

Sources for Glucose Transporter Type 1 Deficiency Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet