Classic glucose transporter type 1 deficiency syndrome (Glut1 DS) is a rare genetic disorder caused by a mutation in the SLC2A1 gene. This gene provides instructions for making a protein called glucose transporter type 1 (GLUT1). This protein is responsible for transporting glucose, a sugar that provides energy to cells, from the bloodstream into the brain. People with Glut1 DS have a deficiency of GLUT1, which prevents glucose from entering the brain. This leads to a variety of neurological symptoms, including seizures, developmental delays, and movement disorders.

The symptoms of Classic glucose transporter type 1 deficiency syndrome (GLUT1 DS) vary from person to person, but can include:

-Developmental delay

-Seizures

-Ataxia (lack of muscle coordination)

-Dystonia (involuntary muscle contractions)

-ChoreoAthetosis (involuntary, jerky movements)

-Speech delay

-Learning disabilities

-Behavioral problems

-Headaches

-Sleep disturbances

-Growth delays

-Hypoglycemia (low blood sugar)

-Fatigue

-Poor appetite

-Weight loss

-Gastrointestinal problems

-Visual disturbances

-Movement disorders

Classic glucose transporter type 1 deficiency syndrome (GLUT1 DS) is caused by mutations in the SLC2A1 gene, which provides instructions for making a protein called glucose transporter type 1 (GLUT1). This protein is responsible for transporting glucose, a sugar that provides energy to cells, from the bloodstream into the brain. Mutations in the SLC2A1 gene reduce or eliminate the activity of GLUT1, preventing glucose from entering the brain. As a result, the brain does not receive enough energy, leading to the signs and symptoms of GLUT1 DS.

1. Dietary management: A diet low in carbohydrates and high in fat and protein is recommended to help manage blood sugar levels.

2. Medications: Medications such as insulin, sulfonylureas, and meglitinides can be used to help manage blood sugar levels.

3. Glucose monitoring: Regular monitoring of blood sugar levels is important to help manage the condition.

4. Exercise: Regular exercise can help improve blood sugar control.

5. Vitamin and mineral supplementation: Vitamin and mineral supplementation may be recommended to help manage the condition.

6. Gene therapy: Gene therapy is being studied as a potential treatment for classic glucose transporter type 1 deficiency syndrome.

1. Family history of the disorder
2. Maternal diabetes
3. Maternal obesity
4. Maternal advanced age
5. Maternal use of certain medications
6. Exposure to certain environmental toxins
7. Genetic mutations in the SLC2A1 gene

There is currently no cure for classic glucose transporter type 1 deficiency syndrome. However, there are medications available to help manage the symptoms. These include medications to help control seizures, medications to help with muscle spasms, and medications to help with the metabolic abnormalities associated with the condition. Additionally, dietary modifications and physical therapy may be recommended to help manage the symptoms.