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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>GLUT1 deficiency syndrome is caused by variants (also known as mutations) in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into cells from the blood or from other cells for use as fuel.</p><p>In the brain, the GLUT1 protein is involved in moving glucose, which is the brain&#x27;s main energy source, across the blood-brain barrier. The blood-brain barrier acts as a boundary between tiny blood vessels (capillaries) and the surrounding brain tissue; it protects the brain&#x27;s delicate nerve tissue by preventing many other types of molecules from entering the brain. The GLUT1 protein also moves glucose between cells in the brain called glia, which protect and maintain nerve cells (neurons).</p><p>SLC2A1 gene variants reduce or eliminate the function of the GLUT1 protein. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes GLUT1 deficiency syndrome?"},{"bodyHtml":"<p>About 10 percent of individuals with GLUT1 deficiency syndrome have a form of the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is usually less severe than the common form. People with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or involuntary tensing of various muscles (dystonia); the movement problems may be more pronounced than in the common form.</p><p>Several conditions that were originally given other names have since been recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, people with variants of GLUT1 deficiency syndrome produce abnormal red blood cells and have uncommon forms of a blood condition known as anemia, which is characterized by a shortage of red blood cells.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"glut1-deficiency-syndrome","sourceDocuments":[{"name":"GLUT1 deficiency syndrome","reviewed":"2014-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:48.401021+00:00","label":"Causes","pageSha256":"d37547a32b5c1d5af81fe677026aa3b96910c56c0ca2f8c314f9e45b1891aa46","sourceUrl":"https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"GLUT1 deficiency syndrome"},"schemaVersion":1}