Glucose Transporter Type 1 Deficiency Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Glucose Transporter Type 1 Deficiency Syndrome is not the name you expected.

Disorder Subdivisions

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General Discussion

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.
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.

Supporting Organizations

American Epilepsy Society

135 South LaSalle Street
Suite 2850
Chicago, IL 60603
Tel: 312-883-3800

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

CURE: Citizens United for Research in Epilepsy

430 W. Erie
Suite Suite 210
Chicago, IL 60654
Tel: (312)765-7118
Fax: (312)255-1801
Tel: (800)765-7118

Epilepsy Foundation

8301 Professional Place
Landover, MD 20785-7223
Tel: (866)330-2718
Fax: (877)687-4878
Tel: (800)332-1000

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

Glut1 Deficiency Foundation

PO Box 943
Westfield, IN 46074-0943
Tel: (859)585-2538

International League Against Epilepsy

342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7547
Fax: (860)586-7550

Intractable Childhood Epilepsy Alliance (ICE)

PO Box 365
250 Lewisville-Vienna Road
Lewisville, NC 27023
Tel: (336)918-9440
Fax: (336)946-1197

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424

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Last Updated:  6/29/2015
Copyright  2014 National Organization for Rare Disorders, Inc.