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Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by heterozygous mutations in the SLC2A1 gene. Glucose transport is impaired across the blood–brain barrier and into astrocytes. This eventually results in cerebral energy deficiency.1 Typically, GLUT1-DS is associated with developmental delay, permanent motor disorders and paroxysmal manifestations including epileptic and non-epileptic paroxysmal episodes.1 2 The phenotypic spectrum is however much wider: exercise-induced paroxysmal dyskinesia may sometimes be the main or sole manifestation of the disease.3 4
Ketogenic diet is the standard of care in GLUT1-DS,1 5 providing ketone bodies as an alternate source of energy to the brain. Other alternative treatments are needed as many patients have difficulties following the heavy constraints of this diet. Triheptanoin (UX007; Ultragenyx Pharmaceuticals, Novato, USA) is a medium odd-chain triglyceride containing three 7-carbon fatty acids with anaplerotic properties.6–8 Unlike even-chain fatty acids that can only generate acetyl-CoA, triheptanoin provides indeed both acetyl-CoA and propionyl-CoA, two key carbon sources for the Krebs cycle.9 10
We recently showed that triheptanoin dramatically reduced by 90% the number of non-epileptic paroxysmal manifestations over 2 months in GLUT1-DS and improved patient’s brain energy profile.9 Here, we wished to evaluate the long-term clinical efficacy of triheptanoin in children and adults with GLUT1-DS.
We extended our study protocol (NCT02014883) based on the striking short-term response with triheptanoin.9 All participants and/or their legal guardians signed a new informed consent. Among the six patients previously reported who completed the initial …
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