What is GLUT1 deficiency?

General Discussion. Summary. 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.

Is GLUT1 deficiency fatal?

Homozygous GLUT1 mutations presumably are lethal. The ketogenic diet is the treatment of choice as it provides an alternative fuel to the brain. It should be introduced early and maintained into puberty. Seizures are effectively controlled with the onset of ketosis, but might recur and require comedication.

Where is GLUT1 found?

The GLUT1 protein is embedded in the outer membrane surrounding cells , where it transports a simple sugar called glucose into cells from the blood or from other cells for use as fuel. In the brain, the GLUT1 protein is involved in moving glucose, which is the brain’s main energy source, across the blood-brain barrier.

What are the 5 glucose transporters?

There are five known Class III glucose facilitative transporters, namely, GLUT6, GLUT8, GLUT10, GLUT12 and GLUT13 (HMIT).

What energy does GLUT1 use?

C GLUT1 Deficiency Syndrome It is due to mutations in the SLC2A1 gene coding for GLUT1 protein61 and displays autosomal dominant inheritance. GLUT1-DS manifestations are explained by deficient glucose transport in the brain, where glucose is the major energy source.

How common is GLUT1?

GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people.

What is the NGS test for GLUT1?

This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of GLUT1 Deficiency Syndrome. Sequence variants and/or copy number variants (deletions/duplications) within the SLC2A1 gene will be detected with >99% sensitivity.

What is GLUT1 deficiency syndrome?

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.

What is the function of GLUT1 in the brain?

In the brain, the GLUT1 protein is involved in moving glucose, which is the brain’s main energy source, across the blood-brain barrier.

How is glucose transporter type 1 deficiency syndrome diagnosed?

Diagnosis. A diagnosis of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a lumbar puncture, specialized blood tests to measure…