TY - JOUR T1 - Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 550 LP - 553 DO - 10.1136/jnnp-2015-311475 VL - 87 IS - 5 AU - Fanny Mochel AU - Elodie Hainque AU - Domitille Gras AU - Isaac M Adanyeguh AU - Samantha Caillet AU - Bénédicte Héron AU - Agathe Roubertie AU - Elsa Kaphan AU - Romain Valabregue AU - Daisy Rinaldi AU - Sandrine Vuillaumier AU - Raphael Schiffmann AU - Chris Ottolenghi AU - Jean-Yves Hogrel AU - Laurent Servais AU - Emmanuel Roze Y1 - 2016/05/01 UR - http://jnnp.bmj.com/content/87/5/550.abstract N2 - Objective On the basis of our previous work with triheptanoin, which provides key substrates to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with glucose transporter type 1 deficiency syndrome (GLUT1-DS) who objected to or did not tolerate ketogenic diets.Methods We performed an open-label pilot study with three phases of 2 months each (baseline, treatment and withdrawal) in eight patients with GLUT1-DS (7–47 years old) with non-epileptic paroxysmal manifestations. We used a comprehensive patient diary to record motor and non-motor paroxysmal events. Functional 31P-NMR spectroscopy was performed to quantify phosphocreatine (PCr) and inorganic phosphate (Pi) within the occipital cortex during (activation) and after (recovery) a visual stimulus.Results Patients with GLUT1-DS experienced a mean of 30.8 (±27.7) paroxysmal manifestations (52% motor events) at baseline that dropped to 2.8 (±2.9, 76% motor events) during the treatment phase (p=0.028). After withdrawal, paroxysmal manifestations recurred with a mean of 24.2 (±21.9, 52% motor events; p=0.043). Furthermore, brain energy metabolism normalised with triheptanoin, that is, increased Pi/PCr ratio during brain activation compared to the recovery phase (p=0.021), and deteriorated when triheptanoin was withdrawn.Conclusions Treatment with triheptanoin resulted in a 90% clinical improvement in non-epileptic paroxysmal manifestations and a normalised brain bioenergetics profile in patients with GLUT1-DS.Trial registration number NCT02014883. ER -