GLUT1related

GLUT1 deficiency syndrome, also known as glucose transporter type 1 deficiency, is a rare genetic disorder characterized by impaired glucose transport across cell membranes. This impairment primarily affects the brain, leading to a range of neurological symptoms. The condition is caused by mutations in the SLC2A1 gene, which provides instructions for making the GLUT1 protein. This protein is responsible for transporting glucose, the primary energy source for cells, into the brain and red blood cells.

Symptoms typically appear in infancy and can vary in severity. Common manifestations include developmental delay, intellectual disability, seizures, and movement disorders such as ataxia and spasticity. Microcephaly, a condition where the head is smaller than normal, and eye abnormalities like nystagmus can also be present. The diagnosis is usually confirmed through genetic testing and by measuring glucose levels in the cerebrospinal fluid, which are characteristically low in affected individuals.

The primary treatment for GLUT1 deficiency syndrome is a ketogenic diet. This high-fat, low-carbohydrate diet forces the body to use ketones for energy instead of glucose. Ketones can cross the blood-brain barrier and provide an alternative fuel source for the brain, thereby alleviating many of the neurological symptoms. While the ketogenic diet can significantly improve outcomes, it requires strict adherence and careful monitoring by a medical team. Early diagnosis and initiation of dietary therapy are crucial for optimizing cognitive and motor development.