GTPS
MCID: GLC024
MIFTS: 30

Glucose Transporter Type 1 Deficiency Syndrome (GTPS) malady

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

Aliases & Classifications for Glucose Transporter Type 1 Deficiency Syndrome

Aliases & Descriptions for Glucose Transporter Type 1 Deficiency Syndrome:

Name: Glucose Transporter Type 1 Deficiency Syndrome 23 50 24 25
Glucose Transporter Protein Syndrome 23 50 24 25
De Vivo Disease 23 50 24 25
Glut-1 Deficiency Syndrome 23 50 24
Glut1 Deficiency Syndrome 50 25 69
Glucose Transport Defect, Blood-Brain Barrier 50 25
Encephalopathy Due to Glut1 Deficiency 50 25
Glut1-Ds 23 24
Glut1 Ds 50 25
G1d 50 25
Glucose Transporter Type 1 Deficiency 29
Glut1 Deficiency 25
Gtps 25

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 : 25 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, muscle spasticity and sleep disturbances. An important gene associated with Glucose Transporter Type 1 Deficiency Syndrome is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Glycerol and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain and eye.

NIH Rare Diseases : 50 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 72)
id Related Disease Score Top Affiliating Genes
1 gtp cyclohydrolase i deficiency 12.3
2 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.0
3 gtp cyclohydrolase 1-related disorders 11.8
4 glut1 deficiency syndrome 1 11.1
5 hyperphenylalaninemia, bh4-deficient, b 11.0
6 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.8
7 dystonia 10.4
8 prostate cancer 10.3
9 neuronitis 10.2
10 endotheliitis 10.2
11 pertussis 10.1
12 epilepsy 10.0
13 ataxia 10.0
14 neuroblastoma 9.9
15 cholera 9.9
16 hyperphenylalaninemia 9.9
17 pancreatitis 9.9
18 leukemia 9.8
19 early onset absence epilepsy 9.8
20 episodic ataxia 9.8
21 rheumatoid arthritis 9.8
22 cutaneous leishmaniasis 9.8
23 renal cell carcinoma 9.8
24 lung cancer 9.8
25 hepatitis 9.8
26 breast cancer 9.8
27 pheochromocytoma 9.7
28 atherosclerosis 9.7
29 prostatitis 9.7
30 influenza 9.7
31 myeloid leukemia 9.7
32 neuropathy 9.7
33 neurofibromatosis 9.7
34 lymphoma 9.7
35 cervicitis 9.7
36 glioma 9.7
37 sarcoma 9.7
38 thyroiditis 9.5
39 cardiomyopathy 9.5
40 burns 9.5
41 heart disease 9.5
42 hyperammonemia 9.5
43 dilated cardiomyopathy 9.5
44 multiple endocrine neoplasia 9.5
45 hiv-1 9.5
46 ischemic heart disease 9.5
47 hepatitis c 9.5
48 hypotonia 9.5
49 melanoma 9.5
50 encephalitis 9.5

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

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

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Experimental Phase 2 56-81-5 753
2
Benzocaine Approved 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 Citrate Nutraceutical Phase 1
6
Citric Acid Nutraceutical, Vet_approved Phase 1 77-92-9 311
7 Chelating Agents
8 Anticoagulants
9 Calcium, Dietary

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
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) Recruiting NCT02960217 Phase 3
2 An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome Recruiting NCT02036853 Phase 2
3 Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS Recruiting NCT02014883 Phase 2
4 Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Active, not recruiting NCT01993186 Phase 2
5 Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Active, not recruiting NCT02000960 Phase 2
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
7 Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D) Not yet recruiting NCT02021526 Phase 1, Phase 2
8 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2
9 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) Unknown status NCT02018315 Phase 1
10 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1
11 Post Study Continuation of C7 for G1D Available NCT02018302 Phase 1
12 Evaluation of Keyo in Children With Epilepsy Completed NCT02915211
13 The Glucose Transporter Type I Deficiency (G1D) Registry Recruiting NCT02013583
14 Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome Enrolling by invitation NCT02968953
15 Triheptanoin (UX007) to Treat Citrate Transporter Deficiency No longer available NCT02500082

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:

id Genetic test Affiliating Genes
1 Glucose Transporter Type 1 Deficiency Syndrome 29 24 SLC2A1

Anatomical Context for Glucose Transporter Type 1 Deficiency Syndrome

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

39
Brain, Eye

Publications for Glucose Transporter Type 1 Deficiency Syndrome

Articles related to Glucose Transporter Type 1 Deficiency Syndrome:

(show all 15)
id Title Authors Year
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
Glucose Transporter Type 1 Deficiency Syndrome Effectively Treated with Modified Atkins Diet. ( 23888468 )
2013
6
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). ( 23443458 )
2013
7
Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness. ( 21212456 )
2011
8
Milder phenotypes of glucose transporter type 1 deficiency syndrome. ( 21649651 )
2011
9
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. ( 21501156 )
2011
10
Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. ( 21838819 )
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

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

7
id 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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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