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) usually presents as either classic Glut1 DS (~90% of affected individuals) or, more rarely, non-classic Glut1 DS (~10% of affected individuals), which comprises a broad phenotypic spectrum.

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, 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.

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).

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.

2025年3月8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.

What Is Glucose Transporter Type 1 Deficiency Syndrome (GLUT1) (SLC2A1 Pathogenic Variant)? GLUT1 stands for glucose transporter protein type 1. GLUT1 deficiency is a rare genetic disorder. It is caused by variants in the SLC2A1 gene. …

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 ...

The classic Glut1 DS disease phenotype is characterized by a pediatric-onset epileptic encephalopathy that responds poorly to antiepileptic drugs, developmental delay, and a complex movement disorder that combines elements of dystonia, ataxia, and spasticity.