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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glucose transporter type 1 deficiency syndrome


Other Names for this Disease
  • GLUT1 deficiency syndrome
  • Encephalopathy due to GLUT1 deficiency
  • Glucose transport defect, blood-brain barrier
  • De Vivo disease
  • GLUT-1 deficiency syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2] 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.[3]
Last updated: 12/7/2015

References

  1. GLUT1 deficiency syndrome. Genetics Home Reference. March 2014; http://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome.
  2. Glucose Transporter Type 1 Deficiency Syndrome. NORD. 2014; https://rarediseases.org/rare-diseases/glucose-transporter-type-1-deficiency-syndrome/.
  3. Dong Wang, MD, Juan M Pascual, MD, PhD, and Darryl De Vivo, MD. Glucose Transporter Type 1 Deficiency Syndrome. GeneReviews. January 2015; http://www.ncbi.nlm.nih.gov/books/NBK1430/#glut1.Clinical_Description.
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Basic Information

  • 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

  • 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.
Other Names for this Disease
  • GLUT1 deficiency syndrome
  • Encephalopathy due to GLUT1 deficiency
  • Glucose transport defect, blood-brain barrier
  • De Vivo disease
  • GLUT-1 deficiency syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.