GLUT1 deficiency
GLUT1 Deficiency
GLUT1 deficiency (pronounced "gloot one deficiency"), also known as Glucose transporter type 1 deficiency syndrome or De Vivo disease, is a genetic disorder that impairs brain metabolism. It is named after the GLUT1 protein, which is responsible for transporting glucose across the blood-brain barrier.
Etymology
The term "GLUT1 deficiency" is derived from the name of the protein that is affected in this condition, the Glucose Transporter Type 1 (GLUT1). The deficiency refers to the insufficient amount or function of this protein. The condition is also known as De Vivo disease, named after Dr. Darryl De Vivo who first described the condition in 1991.
Symptoms
GLUT1 deficiency is characterized by a wide variety of neurological symptoms. These include epilepsy, developmental delay, movement disorders, and speech difficulties. The severity and combination of symptoms can vary greatly among individuals with this condition.
Causes
GLUT1 deficiency is caused by mutations in the SLC2A1 gene, which provides instructions for producing the GLUT1 protein. This protein is critical for transporting glucose into the brain, which is the brain's primary source of energy. When the GLUT1 protein is deficient or not functioning properly, the brain is not adequately supplied with glucose, leading to the symptoms of GLUT1 deficiency.
Diagnosis
Diagnosis of GLUT1 deficiency is based on clinical symptoms, genetic testing for mutations in the SLC2A1 gene, and a lumbar puncture to measure glucose levels in the cerebrospinal fluid.
Treatment
There is currently no cure for GLUT1 deficiency. Treatment is focused on managing symptoms and often involves a special high-fat, low-carbohydrate diet known as the ketogenic diet. This diet can help provide an alternative energy source for the brain.
Related Terms
External links
- Medical encyclopedia article on GLUT1 deficiency
- Wikipedia's article - GLUT1 deficiency
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