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.

Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome

VEGGIOTTI, PIERANGELO;
2014

Abstract

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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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11571/979660
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