GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms. Approximately 90 percent of affected individuals have a form of the disorder often referred to as common GLUT1 deficiency syndrome.

Glut1 Deficiency is a rare genetic condition that impairs brain metabolism. It is caused by mutations or variants in the SLC2A1 gene, which encodes the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose and also moves other important sugars across the blood-brain barrier.

2002年7月30日 · Glucose transporter type 1 deficiency syndrome (Glut1 DS) should be suspected in individuals with one of the following two phenotypes. Classic Glut1 DS (~90% of affected individuals) Non-classic Glut1 DS (~10% of affected individuals) CSF glucose concentration.

The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS).

2025年3月18日 · Glut1 Deficiency is a rare genetic condition that impairs brain metabolism. Glucose isn't transported properly across the blood brain barrier and into the brain, preventing it from growing, developing, and functioning the way it should.

GLUT1 is an integral membrane hydrophobic protein that comprises of 492 amino acids with a molecular weight of 54 kDa. It helps in the transport of glucose, galactose, mannose, glucosamine and ascorbic acid. It is also known as erythrocyte/brain; HepG2 GLUT protein.

GLUT1, encoded by the SLC2A1 gene, is one of the most extensively studied of membrane transport proteins. GLUT1 has a high expression as two molecular forms of 55 and 45 kDa in brain.

2025年3月18日 · Upregulation of GLUT1, an important glucose transporter, has been identified in various neoplastic processes and may be a useful diagnostic and prognostic factor

Childhood onset GLUT1 deficiency syndrome 2 is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9 ...