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GLUT1 deficiency syndrome

MONDO:0000188

An epileptic encephalopathy resulting from impaired glucose transport into the brain.

Also known as: GLUT1 deficiency syndrome, GLUT1DS

12 clinical trials for this condition and its sub-types, 4 tagged with GLUT1 deficiency syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary neurological disease (5791) ↑ Inborn carbohydrate metabolic disorder (370) ↑ Carbohydrate transport disease (156) ↑ Metabolic epilepsy (8)

Sub-types of GLUT1 deficiency syndrome

Encephalopathy due to GLUT1 deficiency 5 trials
Childhood onset GLUT1 deficiency syndrome 2 0 trials

Including sub-types (12) Tagged with GLUT1 deficiency syndrome (4)

Trials to join now! 2 Not yet finished but already full! 1 Completed 1

Special oil may tame seizures in rare brain energy disorder

Disease control Completed

This phase 2 trial tested triheptanoin oil in 20 people with GLUT1 deficiency syndrome, a rare genetic condition that prevents glucose from properly fueling the brain. The goal was to see if this special oil could reduce the number of seizures and abnormal movement episodes. Part…

Phase 2 • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Disease control

Last updated Jun 27, 2026 07:53 UTC