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Glucose Transporter Type 1 Deficiency Syndrome

What is Glucose Transporter Type 1 Deficiency Syndrome?

Glucose Transporter Type 1 Deficiency Syndrome is a rare disorder caused by impaired glucose transport into the brain.


Glucose Transporter Type 1 Deficiency Syndrome is a rare disorder caused by impaired glucose transport into the brain.
Acknowledgement of Glucose Transporter Type 1 Deficiency Syndrome has not been added yet.
Synonyms for Glucose Transporter Type 1 Deficiency Syndrome has not been added yet.
Glucose Transporter Type 1 deficiency is caused by a random mutation of the SLC2A1 gene. This gene is inherited as an autosomal dominant trait which means that it only requires one copy of the mutated gene to cause the disorder.
The most common symptom of Glut1 deficiency is seizures during the first four months of life. For some individuals, seizures are a daily occurrence whereas it may only occur every few months for others. Individuals with Glut1 deficiency may also have decelerated head growth, resulting in a smaller head circumference. In addition, affected individuals may develop muscle weakness and an inability to coordinate voluntary movements. Other possible symptoms include varying degrees of cognitive impairment, which ranges from mild learning disabilities to severe intellectual disability. Affected individuals may experience speech and language impairment due to the abnormalities affecting the muscles that are involved in speech.
Name Description
Infantile seizures Infantile seizures refractory to anticonvulsants
Deceleration of head growth Deceleration of head growth
Delays in mental and motor development Delays in mental and motor development
Spasticity Spasticity
Ataxia Loss of the ability to coordinate muscle movement
Opsoclonus Opsoclonus
Dysarthria Dysarthria
A diagnosis can be made based on characteristic symptoms, the patient’s history, and different specialized tests. Patients with Glut1 deficiency will have low concentrations of glucose in their spinal fluid and low erythrocyte (red blood cell) glucose transporter activity.
Diagnostic tests of Glucose Transporter Type 1 Deficiency Syndrome has not been added yet
Although there is no cure for Glut1 deficiency syndrome, the symptoms of the disorder can be treated. A ketogenic diet, a high-fat and low-carbohydrate diet, can help prevent seizure activity in many individuals with the syndrome. A ketogenic diet forces the body to burn fat instead of sugar for energy. The diet must be strictly adhered to and patients should consult with their dietrician or nutirionist on a regular basis. While a ketogenic diet can prevent seizures, it is ineffective in treating other symptomssuch as cognitive impairment or behavioral issues. Anti-epileptic drugs are generally ineffective, but can be used as a secondary treatment while on a ketogenic diet.
The ketogenic diet along with epilepsy medicines are enough to control the seizures. However, children will need support with their learning, feeding, and other activities.
Tips or Suggestions of Glucose Transporter Type 1 Deficiency Syndrome has not been added yet.
References of Glucose Transporter Type 1 Deficiency Syndrome has not been added yet.
ketogenic diet Created by lil_red
Last updated 9 Feb 2009, 08:16 PM

Posted by gregorypeace
9 Feb 2009, 08:16 PM

Yeah Jessica has trouble in the heat (but we don't have much of that over here in the UK !! - we haven't taken her abroad) and we think she's more ataxic in the cold. I know other parents have mentioned problems in the heat. Before she comes down with a cold or virus she's far more wobbley and may have problems talking. She started walking late at 3 with help using a frame, but is starting to catch up. From what we've read all glut1 kids have great personalities. We stopped Jessica's seizure medication on her first birthday as we thought it just masked her symptoms. The diet is fantastic. I worried a lot about her head growth - but that doesn't appear to be a problem. Jessica says she hates glut1 - but it makes her even more special. I promise you'll meet some new friends on the yahoo site and be able to learn, give advice and share all things glut1.

Posted by lil_red
9 Feb 2009, 07:56 PM

Before the diet she had 1 grand mal seizure and thousands of drop seizures , absent seizures. She had to be watched constantly so she would not hit her head during was a nightmare however since the diet 90% of the time is seizure free. She has made amazing progess at school but will probably always have a learning delay. We love her personality now that it is now clouded by the anti seizure meds. I had no idea about the chat rooms at yahoo but will be sure to check them out. Thanks so much for the info. I have noticed our daughter does not tolerate heat well. During the summer months we are carefull not to take her out in the heat for very long. I was wondering if you noticed the same. We do see Dr. DeVivo during one of our trips we mentioned it and they said a few other families that had the same problem.

Posted by gregorypeace
9 Feb 2009, 07:36 PM

Yes the diet is worth all the hard work for sure. We were so worried when Jess was diagnosed, but realize how lucky we were with her being diagnosed at such a young age. Do you visit doctor de Vivo in NY? My wife has met Doctor klepper from Germany. Have you joined the yahoo groups - There's loads on us on there ;-) but i like the format of this web site and will encourage others to join. Does your daughter have seizures anymore? Jess used to have eye rolling seizures all the time but not now. She's catching the other kids in her class up with her development. i love coming across new families

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ketogenic diet

Created by lil_red | Last updated 9 Feb 2009, 08:16 PM


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