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 +9 more
doaj +4 more sources
The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome [PDF]
Frontiers in NeurologyBackgroundGlucose transporter type 1 deficiency syndrome (Glut1DS) is a treatable neurogenetic metabolic disorder caused by pathogenic variants in the SLC2A1 gene.
Mei-Jiao Zhang +7 more
doaj +4 more sources
Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series
Türk Nöroloji Dergisi, 2021 Glucose transporter type 1 deficiency syndrome is a neurometabolic encephalopathy characterized by movement disorders, intractable seizures, and acquired microcephaly.
Miraç Yıldırım +4 more
doaj +2 more sources
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 +11 more
doaj +2 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 +14 more
doaj +2 more sources
Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation. [PDF]
Int J Environ Res Public Health, 2022 Pawlik W +3 more
europepmc +3 more sources
Dysregulated Hepatic Expression of Glucose Transporter Type-1, Toll-Like Receptor 4, and Nuclear Factor Kappa B in Estrogen-Induced Cholestasis Pregnant Rats with Placental Ischemia-Reperfusion Stress. [PDF]
Matern Fetal Med, 2022 Zhou F +5 more
europepmc +2 more sources
TRIM38 triggers the uniquitination and degradation of glucose transporter type 1 (GLUT1) to restrict tumor progression in bladder cancer. [PDF]
J Transl Med, 2021 Wang X +5 more
europepmc +3 more sources
Neurological Sciences and Neurophysiology, 2022 Glucose transporter type 1 deficiency syndrome (GLUT-1 DS) is an inborn error of metabolism that results in defective glucose transport and consequently a reduced supply of glucose to the brain.
Zuhal Yapici +4 more
doaj +2 more sources
Glucose transporter type 1 deficiency syndrome and the ketogenic diet. [PDF]
J Inherit Metab Dis, 2020 Schwantje M +3 more
europepmc +3 more sources