Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 87, Issue 5, 2016, Pages 550-553

  Mochel, Fanny ^a,b   Hainque, Elodie ^a,b   Gras, Domitille ^a,c   Adanyeguh, Isaac M ^a   Caillet, Samantha ^b   Héron, Bénédicte ^d   Roubertie, Agathe ^e,f   Kaphan, Elsa ^g   Valabregue, Romain ^a,h   Rinaldi, Daisy ^a   Vuillaumier, Sandrine ⁱ   Schiffmann, Raphael ^j   Ottolenghi, Chris ^k,l   Hogrel, Jean Yves ^m   Servais, Laurent ^m   Roze, Emmanuel ^a,b  

^a SORBONNE UNIVERSITÉ   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e GUI DE CHAULIAC HOSPITAL   (France)

^f Montpellier University Medical Center   (France)

^g TIMONE HOSPITAL   (France)

^h INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

ⁱ BICHAT HOSPITAL   (France)

^j BAYLOR RESEARCH INSTITUTE   (United States)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l UNIVERSITÉ PARIS DESCARTES   (France)

^m Institute of Myology   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE PHOSPHATE; PHOSPHATE; TRIHEPTANOIN; GLUCOSE TRANSPORTER 1; SLC2A1 PROTEIN, HUMAN; TRIACYLGLYCEROL;

6 MINUTE WALK TEST; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL GLOBAL IMPRESSION SCALE; ENERGY METABOLISM; FEMALE; GASTROINTESTINAL SYMPTOM; GENETIC DISORDER; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HUMAN; MALE; MIDDLE AGED; MOTOR DYSFUNCTION; MOTOR FUNCTION TEST; OCCIPITAL CORTEX; OPEN STUDY; PAROXYSMAL MOTOR DISORDER; PATIENT COMPLIANCE; PEGBOARD TEST; PILOT STUDY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; VISUAL STIMULATION; YOUNG ADULT; CHOREA; CLINICAL TRIAL; DEFICIENCY; DRUG EFFECTS; FUNCTIONAL NEUROIMAGING; GENETICS; METABOLISM; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OCCIPITAL LOBE;

ADOLESCENT; ADULT; CHILD; CHOREA; ENERGY METABOLISM; FEMALE; FUNCTIONAL NEUROIMAGING; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; OCCIPITAL LOBE; PHOSPHATES; PHOSPHOCREATINE; PILOT PROJECTS; TRIGLYCERIDES; YOUNG ADULT;

EID: 84968909213     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2015-311475     Document Type: Article

References (15)

1. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703-9.
2. Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010;133:655-70.
3. Gras D, Roze E, Caillet S, et al. GLUT1 deficiency syndrome: an update. Rev Neurol (Paris) 2014;170:91-9.
4. Pons R, Collins A, Rotstein M, et al. The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 2010;25:275-81.
5. Klepper J, Leiendecker B. Glut1 deficiency syndrome and novel ketogenic diets. J Child Neurol 2013;28:1045-8.
6. Mochel F, DeLonlay P, Touati G, et al. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Mol Genet Metab 2005;84:305-12.
7. Adanyeguh IM, Rinaldi D, Henry PG, et al. Triheptanoin improves brain energy metabolism in patients with Huntington disease. Neurology 2015;84:490-5.
8. Sappey-Marinier D, Calabrese G, Fein G, et al. Effect of photic stimulation on human visual cortex lactate and phosphates using 1H and 31P magnetic resonance spectroscopy. J Cereb Blood Flow Metab 1992;12:584-92.
9. Mochel F, N'Guyen TM, Deelchand D, et al. Abnormal response to cortical activation in early stages of Huntington disease. Mov Disord 2012;27:907-10.
10. Chance B, Eleff S, Leigh JS, et al. Mitochondrial regulation of phosphocreatine/inorganic phosphate ratios in exercising human muscle: a gated 31P NMR study. Proc Natl Acad Sci USA 1981;78:6714-18.
11. Kim TH, Borges K, Petrou S, et al. Triheptanoin reduces seizure susceptibility in a syndrome-specific mouse model of generalized epilepsy. Epilepsy Res 2013;103:101-5.
12. Marin-Valencia I, Good LB, Ma Q, et al. Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain. J Cereb Blood Flow Metab 2013;33:175-82.
13. Hadera MG, Smeland OB, McDonald TS, et al. Triheptanoin partially restores levels of tricarboxylic acid cycle intermediates in the mouse pilocarpine model of epilepsy. J Neurochem 2014;129:107-19.
14. Francis JS, Markov V, Leone P. Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. J Inherit Metab Dis 2014;37:369-81.
15. Pascual JM, Liu P, Mao D, et al. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol 2014;71:1255-65.