Glucose Transporter Type 1 Deficiency Syndrome

Summarized by Plex Health
Last Updated: 10 May 2022

Glucose transporter type 1 deficiency syndrome is a rare hereditary metabolic disorder defined by deficiency of a protein that is needed for glucose to cross the blood-brain barrier and other tissue obstacles. However, the symptoms and intensity of Glut1DS can vary significantly from a single person to another. Some affected individuals may not develop epilepsy. Seldom, the problem also might be inherited in an autosomal recessive pattern. Glut1DS does not reply to typical epilepsy treatments, but is efficiently treated with the ketogenic diet plan. Glut1DS was first defined in the medical literary works in 1991 by Dr. De Vivo, et al. Glut1DS is identified as an epileptic encephalopathy. Epileptic encephalopathies are a group of disorders in which seizure activity is related to progressive psychomotor disorder. Paroxysmal exercise-induced dyskinesias, known previously as dystonia 18 and dystonia 9, are now considered part of the Glut1DS spectrum. Epilepsy commonly provides in infancy whereas PED frequently emerges in late childhood years and teenage years. Scroll back up to bring back default view.

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