Glucose transporter 1 (or GLUT1), also known as solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1), is a uniporter protein that in humans is encoded by the SLC2A1 gene. [1] GLUT1 facilitates the transport of glucose across the plasma membranes of …

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.

GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]

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.

Glucose transporter type I deficiency syndrome (GLUT-1 DS) disorders are rare genetic disorders related to how glucose travels from blood to brain. Glucose is a form of sugar that normally provides essential energy to the body’s tissues and organs.

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.

2024年7月30日 · Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier and other tissue barriers. The most common symptom is seizures (epilepsy), which usually begin within the first few months of life.

GLUT1 transports a sugar (glucose) from your blood into your brain. So if you have GLUT1 deficiency, your brain doesn’t get enough glucose. This affects how your brain functions and grows.

GLUT1 deficiency syndrome-1 (GLUT1DS1) is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor …