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Glucose Transporter Type 1 Deficiency Syndrome

Abstract

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NORD is very grateful to Darryl De Vivo, MD, Department of Pediatric Neurology Columbia University, Neurological Institute of New York, for assistance in the preparation of this report.

Synonyms of Glucose Transporter Type 1 Deficiency Syndrome

  • De Vivo Disease
  • Glucose Transporter Protein Syndrome
  • Glut-1 Deficiency Syndrome
  • Glut1-DS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Glucose transporter type 1 (Glut1) deficiency syndrome is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier. The most common symptom is seizures (epilepsy), which usually begin within the first few months of life. However, the symptoms and severity of Glut1 deficiency syndrome can vary substantially from one person to another. For example, some affected individuals may not develop epilepsy. Additional symptoms that can occur include movement disorders, developmental delays, and varying degrees of cognitive impairment and speech and language abnormalities. Glut1 deficiency syndrome is caused by mutations in the SLC2A1 gene and is inherited as an autosomal dominant trait. Rarely, the condition also may be inherited as an autosomal recessive trait. Glut1 deficiency syndrome does not respond to traditional epilepsy treatments (e.g., anti-seizure medications), but has been successfully treated with the ketogenic diet.

Introduction
Glut1 deficiency syndrome was first described in the medical literature in 1991 by Dr. De Vivo, et al. The disorder is sometimes known as De Vivo disease. Glut1 deficiency syndrome is classified as an epileptic encephalopathy. Epileptic encephalopathies are a group of disorders in which seizure activity is associated with progressive psychomotor dysfunction. Paroxysmal exercised-induced dyskinesias (PED), also known previously as dystonia 18 and dystonia 9, are now considered part of the Glut1 deficiency syndrome spectrum. Epilepsy commonly presents in infancy whereas PED commonly emerges in late childhood and adolescence.

Organizations related to Glucose Transporter Type 1 Deficiency Syndrome

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

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