GLUT1 deficiency

Overview

Diagram of autosomal dominant inheritance.

GLUT1 Deficiency Syndrome is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the glucose transporter type 1 (GLUT1), which is responsible for transporting glucose across the blood-brain barrier. This deficiency leads to a shortage of glucose in the cerebrospinal fluid, resulting in a variety of neurological symptoms.

Genetics

GLUT1 Deficiency Syndrome is typically inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is caused by mutations in the SLC2A1 gene, which encodes the GLUT1 protein. In some cases, the mutation occurs de novo, meaning it is a new mutation that was not inherited from either parent.

Symptoms

The symptoms of GLUT1 Deficiency Syndrome can vary widely among affected individuals but often include:

• Seizures
• Developmental delay
• Movement disorders such as ataxia
• Microcephaly
• Intellectual disability

Diagnosis

Diagnosis of GLUT1 Deficiency Syndrome is based on clinical evaluation, laboratory tests, and genetic testing. A key diagnostic test is the measurement of glucose levels in the cerebrospinal fluid, which are typically low in affected individuals. Genetic testing can confirm the diagnosis by identifying mutations in the SLC2A1 gene.

Treatment

There is currently no cure for GLUT1 Deficiency Syndrome, but treatment focuses on managing symptoms and improving quality of life. The ketogenic diet, which is high in fats and low in carbohydrates, is often used to provide an alternative energy source for the brain. This diet can help reduce seizures and improve other neurological symptoms.

Prognosis

The prognosis for individuals with GLUT1 Deficiency Syndrome varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and intervention can improve outcomes and help manage symptoms more effectively.

Related pages

• Blood-brain barrier
• Ketogenic diet
• Seizure disorder
• Genetic disorder