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Clinical nutrition

Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis

European Journal of Clinical Nutrition volume 74, pages 1290–1298 (2020)Cite this article

Subjects

Abstract

Background/objectives

Glucose Transporter 1 Deficiency Syndrome (GLUT1-DS; OMIM #606777) is a rare disease caused by dominant mutations in SLC2A1 encoding GLUT1, which is a ubiquitous transporter of glucose across plasma membranes, particularly across the blood-brain barrier. Hypoglycorrhachia symptoms are the cornerstones of GLUT1-DS, but delayed growth has also been suggested. This led us to investigate, at diagnosis, the relationship between the glycemia/glycorrhachia ratio and the nutritional and growth pattern phenotype of 30 GLUT-DS patients.

Subjects/methods

An assessment was made of body weight (BW), body length/height (BL, BH) and body composition by anthropometry and DEXA, and the results put with BL and BW at birth, genetic target, glycemia, insulinemia, and glycorrhachia values.

Results

At birth, 21% of patients had a BW below −1.645 z-score, whereas no patients had BL below the reference values. At diagnosis 23% of the patients had an impaired nutritional status, 19.2% and 3.8% being respectively underweight and overweight/obese; 10%, all under 10 years old, had BL/BH below −1.645 z-score, with no specific features related to body composition. Finally, there was no association between glycemia, glycorrhachia, and growth phenotype.

Conclusions

GLUT1-DS is associated with impaired BW but not BL intrauterine growth, with a slower than normal pattern of growth rather than growth failure. These data could be useful for the interpretation of any long-term effects of the ketogenic diet, e.g. nutritional and growth pattern decline.

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Acknowledgements

We would like to thank the patients with GLUT1 deficiency syndrome, their families, and the “Italian Association GLUT1 ONLUS” for their participation in the study. We also thank Greta Gambacorta for her help in the data collection, and Adrian Wallwork and Barbara Carey for the English revision.

Funding

This study was supported by the International Center for the Assessment of Nutritional Status (ICANS) and by the Department of Pediatrics, V. Buzzi Children’s Hospital, University of Milan.

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Authors and Affiliations

  1. International Center for the Assessment of Nutritional Status (ICANS), Department of Food Environmental and Nutritional Sciences (DeFENS), University of Milan, Via Sandro Botticelli 21, 20133, Milan, Italy

    Simona Bertoli, Ramona De Amicis, Alessandro Leone, Chiara Lessa & Alberto Battezzati

  2. Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Milan, Italy

    Simona Bertoli & Valentina De Giorgis

  3. Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy

    Silvia Masnada & Mirko Gambino

  4. Department of Pediatrics, V. Buzzi Children’s Hospital, University of Milan, Milan, Italy

    Arianna Sangiorgio, Gian Vincenzo Zuccotti & Chiara Mameli

  5. Human Nutrition and Eating Disorder Centre, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy

    Anna Tagliabue & Cinzia Ferraris

  6. Department of Child Neurology and Psychiatry, IRCCS “C. Mondino” National Neurological Institute, Pavia, Italy

    Valentina De Giorgis

  7. Pediatric Neurology Unit, “V. Buzzi” Hospital, Milan, Italy

    Pierangelo Veggiotti

  8. Biomedical and Clinical Sciences Department, L Sacco, University of Milan, Milan, Italy

    Pierangelo Veggiotti

Authors
  1. Simona Bertoli
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  2. Silvia Masnada
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  3. Ramona De Amicis
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  5. Alessandro Leone
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  6. Mirko Gambino
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  9. Cinzia Ferraris
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  10. Valentina De Giorgis
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  11. Alberto Battezzati
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  12. Gian Vincenzo Zuccotti
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  13. Pierangelo Veggiotti
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  14. Chiara Mameli
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Contributions

Conceptualization, SB and CM. Methodology, SB and CM. Formal analysis, AL. Investigation, RD, CL, CF, AS and MG. Data management, SB, CM, SM and PV. Writing—original draft preparation, SB, CM, AL, RD and SM. Writing—review and editing, AT, PV, AB, VD, and GZ. Funding acquisition, SB, CM, PV, and GZ. All authors approved the final version.

Corresponding author

Correspondence to Simona Bertoli.

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The authors declare that they have no conflict of interest.

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Bertoli, S., Masnada, S., De Amicis, R. et al. Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis. Eur J Clin Nutr 74, 1290–1298 (2020). https://doi.org/10.1038/s41430-020-0662-z

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  • DOI: https://doi.org/10.1038/s41430-020-0662-z

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