GLUT1 deficiency syndrome

GLUT1 Deficiency Syndrome GLUT1 Deficiency Syndrome (GLUT1DS) is a rare genetic disorder that affects the brain's ability to utilize glucose, leading to a variety of neurological symptoms. This condition is caused by mutations in the SLC2A1 gene, which encodes the glucose transporter protein type 1 (GLUT1).

Overview

GLUT1DS is characterized by a deficiency in the GLUT1 protein, which is responsible for transporting glucose across the blood-brain barrier. This deficiency results in insufficient glucose supply to the brain, leading to energy deficits and neurological dysfunction.

Symptoms

The symptoms of GLUT1DS can vary widely among individuals but often include:

• Seizures: Often the first symptom to appear, typically starting in infancy.
• Developmental Delay: Delays in reaching developmental milestones.
• Movement Disorders: Such as ataxia, dystonia, and spasticity.
• Microcephaly: A smaller than normal head size.
• Cognitive Impairment: Ranging from mild learning disabilities to severe intellectual disability.

Diagnosis

Diagnosis of GLUT1DS is based on clinical evaluation, genetic testing, and laboratory tests such as:

• Lumbar Puncture: To measure glucose levels in the cerebrospinal fluid (CSF), which are typically low in GLUT1DS.
• Genetic Testing: Identification of mutations in the SLC2A1 gene.

Treatment

There is no cure for GLUT1DS, but treatment focuses on managing symptoms and providing the brain with an alternative energy source:

• Ketogenic Diet: A high-fat, low-carbohydrate diet that provides ketones as an alternative fuel for the brain.
• Antiepileptic Drugs: To control seizures, although they may be less effective than dietary therapy.

Prognosis

The prognosis for individuals with GLUT1DS varies. Early diagnosis and treatment with a ketogenic diet can improve outcomes, but some individuals may continue to experience neurological challenges.

Research

Ongoing research is focused on better understanding the pathophysiology of GLUT1DS, developing new treatments, and improving diagnostic methods.

See Also

• SLC2A1 gene
• Ketogenic diet
• Neurological disorders

External Links

• National Organization for Rare Disorders (NORD)
• Genetic and Rare Diseases Information Center (GARD)

NIH genetic and rare disease info

• NIH info on GLUT1 deficiency syndrome

GLUT1 deficiency syndrome is a rare disease.