GLUT1 is a glucose transporter that is responsible for the facilitated diffusion of glucose across the blood-brain barrier. GLUT1 deficiency syndrome is a rare genetic disorder where mutations in the gene encoding GLUT1 reduce or eliminate the function of the GLUT1 protein. Affected individuals suffer from seizures along with a number of potential neurological problems. What is the link between GLUT1 dysfunction and these neurological complications

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16-09-2020
Biology

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GLUT1 is a glucose transporter that is responsible for the facilitated diffusion of glucose across the blood-brain barrier. GLUT1 deficiency syndrome is a rare genetic disorder where mutations in the gene encoding GLUT1 reduce or eliminate the function of the GLUT1 protein. Affected individuals suffer from seizures along with a number of potential neurological problems. What is the link between GLUT1 dysfunction and these neurological complications

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eyitbay eyitbay · Answer 1 · 2020-09-20T02:28:30+02:00

Answer:

Since the glucose cellular utilization is reduced, and the main sources of energy for the brain is glucose(20%),less glucose is available in the red blood cells,and therefore for the blood uptake,Therefore little amount would be available to cross the BBB,to reach the brain.These lead to seizures and other complications.

Explanation:

Glucose transporter type 1 deficiency syndrome is a disorder of the nervous system inherited by infants from parents.It result from mutation of the the Glucose Transporter 1 that transports glucose to the red blood cells of brain.,There are also GLUT 4,2,3

When the gene for the protein of GLUT 1 is mutated,and inherited(as Autosomal dominant form) the symptoms of seizure (epilepsy) and involuntary eye movements occurs in few months after birth.

Other symptoms are small head size, delayed developments,poor cognitions,and loss of motor control.

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