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Disease Profile
Glucose transporter type 1 deficiency syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
G93.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
GLUT1 deficiency syndrome; Encephalopathy due to GLUT1 deficiency; Glucose transport defect, blood-brain barrier;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Glucose transporter type 1 deficiency
Symptoms
- Recurrent
seizures (epilepsy ) beginning in the first months of life Microcephaly (unusually small head size) that develops after birthDevelopmental delay Intellectual disability - Speech and language impairment
- Movement abnormalities (i.e. involuntary eye movements,
spasticity ,ataxia ,dystonia ) - Behavioral problems
Other signs and symptoms may include headaches, confusion, loss of energy and/or myoclonus (muscle twitches).[1]
Approximately 10% of affected people have the non-epileptic form of GLUT1 deficiency syndrome. This form is associated with all the typical symptoms of the condition without seizures.[1][3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal |
0001877 | |
Ataxia | 0001251 | |
Dystonia | 0001332 | |
0002353 | ||
0001298 | ||
Global developmental delay | 0001263 | |
Hypoglycorrhachia |
Low glucose levels in cerebral spinal fluid
|
0011972 |
Progressive microcephaly |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
Spasticity |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
30%-79% of people have these symptoms | ||
Choreoathetosis | 0001266 | |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
Cyanosis |
Blue discoloration of the skin
|
0000961 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Difficulty articulating speech
|
0001260 | |
Extrapyramidal dyskinesia | 0007308 | |
Generalized hyperreflexia | 0007034 | |
Headache |
Headaches
|
0002315 |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Lethargy | 0001254 | |
Muscle stiffness | 0003552 | |
Paralysis |
Inability to move
|
0003470 |
Paroxysmal involuntary eye movements | 0007704 | |
Seizure | 0001250 | |
5%-29% of people have these symptoms | ||
Apraxia | 0002186 | |
0000007 | ||
Central apnea | 0002871 | |
Myoclonus | 0001336 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
0000006 | ||
Babinski sign | 0003487 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Paroxysmal dystonia | 0002268 | |
Paroxysmal lethargy | 0011973 | |
Postnatal microcephaly | 0005484 | |
Specific learning disability | 0001328 |
Cause
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Glut1 Deficiency Foundation
P.O. Box 737
Owingsville, KY 40360
E-mail: [email protected]
Website: https://www.g1dfoundation.org/ -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Glucose transporter type 1 deficiency syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Glucose transporter type 1 deficiency syndrome. Click on the link to view a sample search on this topic.
References
- GLUT1 deficiency syndrome. Genetics Home Reference. March 2014; https://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome.
- Glucose Transporter Type 1 Deficiency Syndrome. NORD. 2014; https://rarediseases.org/rare-diseases/glucose-transporter-type-1-deficiency-syndrome/.
- Dong Wang, MD, Juan M Pascual, MD, PhD, and Darryl De Vivo, MD. Glucose Transporter Type 1 Deficiency Syndrome. GeneReviews. January 2015; https://www.ncbi.nlm.nih.gov/books/NBK1430/#glut1.Clinical_Description.
- What is Glut1 Deficiency?. GLUT1 Deficiency Foundation. https://www.g1dfoundation.org/what-is-glut1-deficiency/what-is-glut1-deficiency/. Accessed 12/7/2015.
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