Current treatment options for Glut1 DS

Currently, there is no approved treatment for Glut1 DS1,2

The current standard care is a combination of antiepileptic drugs (AEDs) to treat seizures plus the ketogenic diet to give the brain an alternative energy source.

Antiepileptic drugs3-5

To reduce the frequency and severity of seizures, most patients are treated empirically with AEDs. However, seizures caused by Glut1 DS are often refractory to traditional AEDs. It’s not unusual for patients with Glut1 DS to have been on 3 or more AEDs prior to a diagnosis. Furthermore, some drugs have been shown to exacerbate seizures when the cause is Glut1 DS.

Even when AEDs are helpful for controlling seizures, they have no effect on movement disorders and developmental delays—symptoms that generally become apparent later in childhood.

Ketogenic diet1,4,6

The goal of the ketogenic diet is to produce ketone bodies—carried across the blood-brain barrier via the MCT-transporter—as an alternative energy source for the brain. In patients who adhere to the diet, it is considered highly effective for controlling seizures. Well-controlled clinical studies are needed to assess efficacy in treating movement disorders and developmental delays.

The diet must be designed and closely monitored by a nutritionist. Reaching the necessary ketone plasma concentrations can be a challenge, and the diet may require modifications along the way. The standard ketogenic diet uses a 4:1 ratio of fat to carbohydrate and protein combined. A modified ketogenic diet (3:1 ratio) may provide adequate ketone plasma concentrations in some patients. Patients also need vitamin and mineral supplementation, as well as monitoring for potential side effects. Patients should be urged not to alter their diet without consulting their health care professional.

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References: 1. Veggiotti P, De Giorgis V. Dietary treatments and new therapeutic perspective in Glut1 deficiency syndrome. Curr Treat Options Neurol. 2014;16(5):291. doi:10.1007/s11940-014-0291-8. 2. Ultragenyx announces positive data from investigator-sponsored trial of triheptanoin in glucose transporter type-1 deficiency syndrome [news release]. Novato, CA: Ultragenyx Pharmaceutical Inc.; April 22, 2015.  http://ir.ultragenyx.com/releasedetail.cfm?releaseid=907860. Updated April 2015. Accessed March 28, 2016. 3. Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC. Glucose transporter type 1 deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia. 2012;53(9):1503-1510. doi:10.1111/j.1528-1167.2012.03592.x. 4. Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013;13(4):342-350. doi:10.1007/s11910-013-0342-7. 5. Wang D, Pascual JM, De Vivo D. Glucose transporter type 1 deficiency syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1430/. Published July 30, 2002. Updated January 22, 2015. 6. Alter AS, Engelstad K, Hinton VJ, et al. Long-term clinical course of Glut1 deficiency syndrome [published online ahead of print April 30, 2014].  J Child Neurol. 2015;30(2):160-169. doi:10.1177/0883073814531822.