What Is Fragile X Syndrome?

Fragile X syndrome (FXS, also known as Martin-Bell syndrome) is a genetic disorder that causes intellectual disabilities of varying degrees. This condition is caused by a mutation in the FMR1 gene which leads to defects in the X-chromosome.

Both males and females are affected by this disease. However, since females have two X chromosomes and males only have one, males often have more severe symptoms. The most common symptoms include intellectual disabilities, seizures, and physical appearance abnormalities (commonly large ears, jaw, and face).

What Are the Treatments?

Currently, the only treatment for FXS is therapy for learning disabilities and medications to treat symptoms like behavior or mood disorders. An abstract was posted on January 17, 2020, detailing a new preclinical trial for FXS involving the ketogenic diet.

fragile x syndrome

This abstract, posted in Neurochemistry International, details Preclinical testing of the ketogenic diet in fragile X mice. Since fragile X syndrome is the leading cause of autism, and the ketogenic diet has been shown to be beneficial in autism, the researchers believe it may also improve symptoms of FXS. Furthermore, the ketogenic diet is a treatment for seizures, which are also associated with this disease.

The researchers will be examining the following variables:

  • Seizures / Seizure Frequency: Common symptoms in fragile X syndrome.
  • Anxiety: A common symptom in fragile X syndrome
  • Diurnal / Circadian Activity: Levels are dependent on FMR1 gene, which is mutated in fragile X syndrome.
  • Weight / Weight loss: Weight gain is associated with fragile X syndrome.


What Impact Will This Study Have?

This study may help provide new insight into not only more therapeutic benefits of the ketogenic diet but, also help fill in the gaps about what we still don’t know.

While the literature does suggest keto has positive effects on autism, the cause is still unknown. Since fragile X syndrome is so strongly linked to autism, this study may help provide some insight into why.



Westmark, et al. Preclinical testing of the ketogenic diet in fragile X mice. Neurochemistry International. 2020.

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