GLUT1 Deficiency Syndrome is a genetic disorder that affects the brains metabolism by inhibiting the flow of glucose from the blood into the brain. GLUT1 is the protein that’s responsible for ensuring that the brain receives adequate glucose, which is the main source of fuel for the brain. A lack of glucose can lead to an impairment of brain function and growth.
It’s actually a mutation of the SCL2A1 gene, which is the gene that provides instructions to produce protein, that causes GLUT1 Deficiency Syndrome. It’s a rare condition that is most likely to have no family history as it most commonly happens because of a new mutation. However, rarely one parent might be affected.
For most children, seizure activity will start to occur after the first few months of life, although it can also happen later in life for children between 2 to 4 years of age. Seizures can be of any type, however, most commonly they will be myoclonic, atonic and tonic-clonic.
Balance and coordination, as well as abnormal limb and eye movement may also provide telltale signs of the syndrome. Children may also appear to be dazed and confused, especially when they wake up before breakfast or when they haven’t eaten adequately.
Babies who develop the syndrome will likely exhibit slow head growth as a result, alongside developmental delay. This can manifest itself as stiffness of the limbs and abnormal posturing. Older children may also experience imbalance, confusion, lethargy, total body paralysis and movement disorders.
GLUT1 Deficiency Syndrome is diagnosed using a lumbar puncture, also known as a spinal tap. This allows a comparison between the glucose levels in the cerebrospinal fluid with those in the blood, if there is a discrepancy less than 0.4 this can be a strong indicator of GLUT1 deficiency.
It’s also possible that genetic testing and an electroencephalogram (EEG) may be arranged to further confirm the syndrome.
Unfortunately, with this particular syndrome it’s highly unlikely that epilepsy medications will be able to fully control seizures in children.
There is no known cure for this syndrome, however, a ketogenic diet can be the most effective form of treatment. A ketogenic diet is a low carbohydrate, high fat diet that allows the body to make ketones that the brain can use as an alternative to glucose.
With the aid of a ketogenic diet, seizures may be controlled and may also help to improve any developmental issues. However, in most cases learning will still be inhibited to some degree and children will likely need assistance with education, feeding and other physical activities. In most cases, the ketogenic diet may need to be continued throughout childhood and quite possibly into later life to help manage the syndrome.
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