Results 1 to 10 of about 275,720 (332)

Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D) [PDF]

Scientific Reports, 2023
Fuel influx and metabolism replenish carbon lost during normal neural activity. Ketogenic diets studied in epilepsy, dementia and other disorders do not sustain such replenishment because their ketone body derivatives contain four carbon atoms and are ...
Adrian Avila, Ignacio Málaga, Deepa Sirsi, Saima Kayani, Sharon Primeaux, Gauri A. Kathote, Vikram Jakkamsetti, Raja Reddy Kallem, William C. Putnam, Jason Y. Park, Shlomo Shinnar, Juan M. Pascual   +11 more
doaj   +4 more sources

Glucose transporter deficiency syndrome type 1: a case report

Русский журнал детской неврологии, 2019
The authors present a unique clinical observation of the case of a hereditary deficiency of a type 1 glucose transporter, also called de Vivo disease. The type 1 glucose transporter deficiency syndrome (OMIM: 606777, ORPHA: 71277) is an extremely rare ...
E. A. Kulish, A. S. Kotov, E. V. Mukhina, Y. Y. Kotalevskaya, D. V. Svetlichnaya, M. V. Panteleeva   +5 more
doaj   +5 more sources

Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry. [PDF]

JAMA Neurol, 2017
Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling.To examine the most common features ...
Hao J, Kelly DI, Su J, Pascual JM.
europepmc   +4 more sources

Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal [PDF]

Epilepsia Open
Glucose transporter type 1 deficiency syndrome (GLUT1DS) commonly presents with early‐onset epilepsy that often resists conventional pharmacological treatment.
Raffaele Falsaperla, Vincenzo Sortino, Gerhard Josef Kluger, Thomas Herberhold, Andrea Rüegger, Pasquale Striano, Martino Ruggieri, Joerg Klepper, Georgia Ramantani   +8 more
doaj   +3 more sources

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. [PDF]

Ann Neurol, 2017
Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1‐DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1‐DS with predominant movement disorders, 18 patients with movement disorders attributed to
Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F.   +14 more
europepmc   +7 more sources

Glucose transporter type 1 deficiency syndrome and the ketogenic diet. [PDF]

J Inherit Metab Dis, 2020
AbstractGlucose transporter type 1 deficiency syndrome (GLUT1DS) is characterised by deficient glucose transport over the blood‐brain barrier and reduced glucose availability in the brain. This causes epilepsy, movement disorders, and cognitive impairment. Treatment with ketogenic diet provides ketones as alternative energy source.
Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA.   +3 more
europepmc   +6 more sources

One Molecule for Mental Nourishment and More: Glucose Transporter Type 1—Biology and Deficiency Syndrome [PDF]

Biomedicines, 2022
Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucose into many tissues, and is highly expressed in the brain and in erythrocytes. Glut1 deficiency syndrome is caused mainly by mutations of the SLC2A1 gene,
Romana Vulturar, Adina Chiș, Sebastian Pintilie, Ilinca Maria Farcaș, Alina Botezatu, Cristian Cezar Login, Adela-Viviana Sitar-Taut, Olga Hilda Orasan, Adina Stan, Cecilia Lazea, Camelia Al-Khzouz, Monica Mager, Mihaela Adela Vințan, Simona Manole, Laura Damian   +14 more
doaj   +2 more sources

Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D) [PDF]

Scientific Reports, 2023
Augmentation of anaplerosis, or replenishment of carbon lost during intermediary metabolic transitions, is desirable in energy metabolism defects. Triheptanoin, the triglyceride of 7-carbon heptanoic acid, is anaplerotic via direct oxidation or 5-carbon ...
Ignacio Málaga, Adrian Avila, Sharon Primeaux, Raja Reddy Kallem, Charles R. Roe, William C. Putnam, Jason Y. Park, Shlomo Shinnar, Chul Ahn, Juan M. Pascual   +9 more
doaj   +2 more sources

A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy. [PDF]

Epilepsia, 2023
AbstractEpilepsy constitutes the most common paroxysmal manifestation of glucose transporter type 1 deficiency (G1D) and is generally considered medication‐refractory. It can also prove therapeutic diet‐resistant. We examined acetazolamide effects in G1D motivated by several longstanding and recent observations: First, the electrographic spike‐waves ...
Málaga I, Avila A, Primeaux S, Park JY, Pascual JM.   +4 more
europepmc   +3 more sources

Effect of Glucose Load on Attention and Seizures in Glucose Transporter Type 1 Deficiency Syndrome

Pediatric Neurology Briefs, 2010
Thirteen patients with glucose transporter type 1 deficiency syndrome (Glut-1 DS) had repeated measures of attention, memory, fine-motor coordination and well-being during a 5-hour oral glucose tolerance test in a study at Baylor College of Medicine ...
J Gordon Millichap
doaj   +3 more sources