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Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome

  • PEDIATRIC NEUROLOGY (HS SINGER, SECTION EDITOR)
  • Published:
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Opinion statement

GLUT1 deficiency syndrome (GLUT1DS) results from impaired glucose transport into the brain: awareness of its wide phenotypic spectrum is a prerequisite in order to ensure an early diagnosis, treating the patients is the subsequent challenge to allow prompt compensation for the brain’s lack of fuel. The ketogenic diet (KD) plays a primary role in the treatment of GLUT1DS because it provides ketone bodies as an alternative source to meet the demands of energy of the brain. Therefore, we recommend early initiation of the KD based on the assumption that early diagnosis and treatment improves the long term neurological outcome: the classic KD (4:1 or 3:1) at the present time is the most proven and effective in GLUT1DS. A KD should be continued at least until adolescence, although there are reports of good tolerability even in adulthood, possibly with a less rigorous ratio; in our experience seizure and movement disorder control can be achieved by a 2:1 ketogenic ratio but the relationship between ketosis and neurodevelopmental outcome remains undetermined. Other types of KDs can, therefore, be considered. The Modified Atkins diet, for example, is also well tolerated and provides effective symptom control; furthermore, this diet has the advantage of being easy to prepare and more palatable, which are important requirements for good compliance. Nevertheless, about 20 % of these patients have compliance trouble or the same diet loses its effectiveness over time; for these reasons, new therapeutic strategies are currently under investigation but further studies on pathophysiological mechanisms and potential effects of novel “diets” or “therapies” are needed for this new pathology.

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Acknowledgment

The authors wish to thank A.I.E.F. ONLUS Foundation for its support.

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Conflict of Interest

This work has been supported by FONDAZIONE CARIPLO, grant n°8 2010-0759.

Pierangelo Veggiotti and Valentina De Giorgis declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Department of Child Neurology and Psychiatry C. Mondino National Neurological Institute, Via Mondino, 2, 27100, Pavia, Italy

    Pierangelo Veggiotti MD

  2. Brain and Behaviour Department, University of Pavia, Pavia, Italy

    Pierangelo Veggiotti MD & Valentina De Giorgis MD

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  1. Pierangelo Veggiotti MD
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  2. Valentina De Giorgis MD
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Correspondence to Pierangelo Veggiotti MD.

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This article is part of the Topical Collection on Pediatric Neurology

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Veggiotti, P., De Giorgis, V. Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome. Curr Treat Options Neurol 16, 291 (2014). https://doi.org/10.1007/s11940-014-0291-8

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