MCID: GLC024
MIFTS: 39

Glucose Transporter Type 1 Deficiency Syndrome

Categories: Rare diseases, Blood diseases, Neuronal diseases

Aliases & Classifications for Glucose Transporter Type 1 Deficiency Syndrome

MalaCards integrated aliases for Glucose Transporter Type 1 Deficiency Syndrome:

Name: Glucose Transporter Type 1 Deficiency Syndrome 23 49 24 28
Glut1 Deficiency Syndrome 49 24 36 69
Glucose Transporter Protein Syndrome 23 49 24
De Vivo Disease 23 49 24
Glucose Transport Defect, Blood-Brain Barrier 49 24
Encephalopathy Due to Glut1 Deficiency 49 24
Glut-1 Deficiency Syndrome 23 49
Glut1 Ds 49 24
G1d 49 24
Glut1 Deficiency 24
Glut1-Ds 23
Gtps 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance in glut1-ds inherited in an autosomal dominant manner is complete...

Classifications:



Summaries for Glucose Transporter Type 1 Deficiency Syndrome

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 glut1 deficiency syndrome, is related to gtp cyclohydrolase 1-deficient dopa-responsive dystonia and hyperphenylalaninemia, bh4-deficient, b, and has symptoms including progressive microcephaly, strabismus and delayed speech and language development. An important gene associated with Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (Solute Carrier Family 2 Member 1), and among its related pathways/superpathways are Bile secretion and Adipocytokine signaling pathway. The drugs Glycerol and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes.

NIH Rare Diseases : 49 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: NBK1430

Related Diseases for Glucose Transporter Type 1 Deficiency Syndrome

Diseases related to Glucose Transporter Type 1 Deficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.1
2 hyperphenylalaninemia, bh4-deficient, b 12.0
3 glut1 deficiency syndrome 1 11.5
4 dystonia, dopa-responsive 11.2
5 hyperinsulinemic hypoglycemia, familial, 6 11.1
6 immune defect due to absence of thymus 10.9
7 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
8 dystonia 10.5
9 prostate cancer 10.5
10 neuronitis 10.3
11 endotheliitis 10.2
12 pertussis 10.1
13 blood group, i system 10.1
14 episodic pain syndrome, familial, 1 10.1
15 ataxia and polyneuropathy, adult-onset 10.0
16 epilepsy 10.0
17 ring chromosome y syndrome 10.0
18 neuroblastoma 9.9
19 cholera 9.9
20 pancreatitis 9.9
21 hyperphenylalaninemia 9.9
22 rheumatoid arthritis 9.9
23 cutaneous leishmaniasis 9.9
24 hepatitis 9.9
25 leukemia 9.9
26 disorganization, mouse, homolog of 9.9
27 early onset absence epilepsy 9.9
28 episodic ataxia 9.9
29 lung cancer 9.8
30 aging 9.8
31 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
32 prostatitis 9.8
33 breast cancer 9.7
34 cataract 32, multiple types 9.7
35 neurofibromatosis, type iv, of riccardi 9.7
36 pheochromocytoma 9.7
37 lymphoma 9.7
38 sarcoma 9.7
39 cervicitis 9.7
40 influenza 9.7
41 myeloid leukemia 9.7
42 neuropathy 9.7
43 glioma 9.7
44 alzheimer disease 9.6
45 blood group--rhesus system e polypeptide 9.6
46 cataract 5, multiple types 9.6
47 multiple endocrine neoplasia, type i 9.6
48 ovarian cancer 9.6
49 parkinson disease, late-onset 9.6
50 protoporphyria, erythropoietic 9.6

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 & Phenotypes for Glucose Transporter Type 1 Deficiency Syndrome

Human phenotypes related to Glucose Transporter Type 1 Deficiency Syndrome:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 31 hallmark (90%) HP:0000253
2 strabismus 31 occasional (7.5%) HP:0000486
3 delayed speech and language development 31 frequent (33%) HP:0000750
4 cyanosis 31 frequent (33%) HP:0000961
5 intellectual disability 31 frequent (33%) HP:0001249
6 ataxia 31 hallmark (90%) HP:0001251
7 lethargy 31 frequent (33%) HP:0001254
8 spasticity 31 hallmark (90%) HP:0001257
9 dysarthria 31 frequent (33%) HP:0001260
10 global developmental delay 31 hallmark (90%) HP:0001263
11 choreoathetosis 31 frequent (33%) HP:0001266
12 hemiparesis 31 frequent (33%) HP:0001269
13 confusion 31 frequent (33%) HP:0001289
14 encephalopathy 31 hallmark (90%) HP:0001298
15 dystonia 31 hallmark (90%) HP:0001332
16 myoclonus 31 occasional (7.5%) HP:0001336
17 abnormal erythrocyte morphology 31 hallmark (90%) HP:0001877
18 status epilepticus 31 hallmark (90%) HP:0002133
19 apraxia 31 occasional (7.5%) HP:0002186
20 headache 31 frequent (33%) HP:0002315
21 eeg abnormality 31 hallmark (90%) HP:0002353
22 sleep disturbance 31 occasional (7.5%) HP:0002360
23 central apnea 31 occasional (7.5%) HP:0002871
24 paralysis 31 frequent (33%) HP:0003470
25 muscle stiffness 31 frequent (33%) HP:0003552
26 generalized hyperreflexia 31 frequent (33%) HP:0007034
27 extrapyramidal dyskinesia 31 frequent (33%) HP:0007308
28 paroxysmal involuntary eye movements 31 frequent (33%) HP:0007704
29 hypoglycorrhachia 31 hallmark (90%) HP:0011972

UMLS symptoms related to Glucose Transporter Type 1 Deficiency Syndrome:


dystonia, paroxysmal, sleep disturbances, muscle spasticity, ataxia

Drugs & Therapeutics for Glucose Transporter Type 1 Deficiency Syndrome

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2 56-81-5 753
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 1, Phase 2
4 Protective Agents Phase 2
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
6 Citrate Nutraceutical Phase 1
7 Micronutrients
8 Trace Elements
9 Chelating Agents
10 Anticoagulants
11 Calcium, Dietary

Interventional clinical trials:

(show all 17)

# Name Status NCT ID Phase Drugs
1 Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT02960217 Phase 3 UX007;Placebo
2 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Completed NCT01993186 Phase 2 UX007 (triheptanoin);Placebo Oil
3 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome Recruiting NCT02036853 Phase 2 Triheptanoin
4 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Recruiting NCT02014883 Phase 2 GLUT1 DS
5 Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Active, not recruiting NCT02000960 Phase 2 Triheptanoin
6 Study to Assess the Long Term Safety and Efficacy of UX007 in Subjects With Glucose Type 1 DS Enrolling by invitation NCT02599961 Phase 2 UX007
7 Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D) Not yet recruiting NCT02021526 Phase 1, Phase 2 Triheptanoin
8 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2 Triheptanoin
9 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) Unknown status NCT02018315 Phase 1 Triheptanoin
10 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1 Triheptanoin
11 Evaluation of Keyo in Children With Epilepsy Completed NCT02915211
12 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
13 Post Study Continuation of C7 for G1D Available NCT02018302 Triheptanoin
14 Evaluation of Krio in Children and Adults With Epilepsy Not yet recruiting NCT03202108
15 Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D Not yet recruiting NCT03301532 Early Phase 1 Triheptanoin
16 Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome No longer available NCT02968953 Triheptanoin
17 Triheptanoin (UX007) to Treat Citrate Transporter Deficiency No longer available NCT02500082 triheptanoin

Search NIH Clinical Center for Glucose Transporter Type 1 Deficiency Syndrome

Genetic Tests for Glucose Transporter Type 1 Deficiency Syndrome

Genetic tests related to Glucose Transporter Type 1 Deficiency Syndrome:

# Genetic test Affiliating Genes
1 Glucose Transporter Type 1 Deficiency Syndrome 28

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

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

38
Eye, Brain, Testes

Publications for Glucose Transporter Type 1 Deficiency Syndrome

Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show all 17)
# Title Authors Year
1
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. ( 28556183 )
2017
2
Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation. ( 28582793 )
2017
3
Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome. ( 27273526 )
2016
4
Alternative ketogenic diets in glucose transporter type 1 deficiency syndrome. ( 27445040 )
2016
5
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome. ( 26615362 )
2015
6
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. ( 24200040 )
2014
7
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). ( 23443458 )
2013
8
Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet. ( 23888468 )
2013
9
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. ( 21838819 )
2011
10
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. ( 21501156 )
2011
11
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness. ( 21212456 )
2011
12
Milder phenotypes of glucose transporter type 1 deficiency syndrome. ( 21649651 )
2011
13
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. ( 17869467 )
2008
14
Three Japanese patients with glucose transporter type 1 deficiency syndrome. ( 16949238 )
2007
15
Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome. ( 15021248 )
2004
16
Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. ( 11477212 )
2001
17
Glucose Transporter Type 1 Deficiency Syndrome ( 20301603 )
1993

Variations for Glucose Transporter Type 1 Deficiency Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC2A1 NM_006516.2(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 GRCh37 Chromosome 1, 43394680: 43394680
2 SLC2A1 NM_006516.2(SLC2A1): c.49G> T (p.Gly17Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 42943291: 42943291

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

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32796 1 39600000 43900000 Deletion facilitated GLUT1 deficiency syndrome
2 32797 1 39600000 43900000 Deletion gene GLUT1 deficiency syndrome
3 32798 1 39600000 43900000 Deletion glucose GLUT1 deficiency syndrome
4 32799 1 39600000 43900000 Deletion human GLUT1 deficiency syndrome
5 32800 1 39600000 43900000 Deletion transporter GLUT1 deficiency syndrome

Expression for Glucose Transporter Type 1 Deficiency Syndrome

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

Pathways for Glucose Transporter Type 1 Deficiency Syndrome

Pathways related to Glucose Transporter Type 1 Deficiency Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976
2 Adipocytokine signaling pathway hsa04920

GO Terms for Glucose Transporter Type 1 Deficiency Syndrome

Sources for Glucose Transporter Type 1 Deficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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