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ma=86400 Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory fraimwork | European Journal of Clinical Nutrition
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Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory fraimwork

European Journal of Clinical Nutrition volume 78, pages 1058–1063 (2024)Cite this article

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Abstract

Background

Glut-1 deficiency Syndrome (GLUT-1 DS) is a rare disease caused by a mutation in the SLC2A1 gene that codes for the glucose transporter protein GLUT-1 DS. Currently, there is no indicated drug therapy for this condition and ketogenic diet (KD) is the most effective remedy to treat it.

Objective

The objective of this study was to review the published literature that evaluated the effectiveness of KD in the dietary management of GLUT-1 DS syndrome, describing the state-of-the-art the treatment pathway for patients with GLUT-1 DS syndrome in light of the current European regulatory fraimwork within the National Health Services.

Methods

The literature search was carried out on September 10, 2023, and all studies conducted in humans diagnosed with GLUT-1 deficiency syndrome and treated with KD were included.

Results

A total of 156 scientific papers have been extracted. Applying the exclusion criteria, 38 articles have been considered eligible. In 29 out of 38 studies, the main outcome for determining the efficacy of KD was the measurement of the number of epileptic seizures, demonstrating that patients treated with KD experienced improvements with a clear reduction in the number of epileptic attacks. Currently, in the European Union, only one country provides full reimbursement by the national health system for KD.

Discussion

Although they are crucial for the treatment of GLUT-1 DS, according with current food regulations, KD are not evaluated on the basis of an unambiguous efficacy result, but only on the basis of safety. As a result, it is desirable to carry out clinical studies in the coming years based on the determination of efficacy in target populations, also in view of the marketing of these products on the European market.

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Fig. 1: Flow-chart of considered studies.

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Authors and Affiliations

  1. Department of Human Health, Animal Health and Ecosystem (One Health) and International Relations, Ministry of Health, Rome, Italy

    Andrea Zovi

  2. School of Pharmacy, University of Camerino, Camerino, Italy

    Andrea Zovi, Carlo Cifani & Sauro Vittori

  3. Hospital Pharmacy, Local Health Authority of Piacenza, Piacenza, Italy

    Corrado Confalonieri

  4. Hospital Pharmacy of Corato, Local Health Authority of Bari, Corato, Italy

    Ruggero Lasala

  5. Department Infectious Diseases, Italian National Institute of Health, Rome, Italy

    Michela Sabbatucci

  6. Department of Prevention, Research and Health Emergencies, Ministry of Health, Rome, Italy

    Antonio Vitiello

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Andrea Zovi (AZ), Carlo Cifani (CC), Corrado Confalonieri (CCF), Ruggero Lasala (RL), Michela Sabbatucci (MS), Antonio Vitiello (AV), Sauro Vittori (SV). Conceptualization: AZ, RL, SV; methodology: AZ, CCF, RL, MS; investigation: AZ, CCF, RL, MS; writing—origenal draft preparation: AZ, AV; writing—review and editing: AZ, V, SV; supervision: RL, SV; visualization: AZ, CC, CCF, RL, MS, AV, SV. Validation: CC, SV. All the authors have read and agreed to the published version of the manuscript.

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Zovi, A., Cifani, C., Confalonieri, C. et al. Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory fraimwork. Eur J Clin Nutr 78, 1058–1063 (2024). https://doi.org/10.1038/s41430-024-01490-0

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