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.

Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis / S. Bertoli, S. Masnada, R. De Amicis, A. Sangiorgio, A. Leone, M. Gambino, C. Lessa, A. Tagliabue, C. Ferraris, V. De Giorgis, A. Battezzati, G.V. Zuccotti, P. Veggiotti, C. Mameli. - In: EUROPEAN JOURNAL OF CLINICAL NUTRITION. - ISSN 0954-3007. - 74:9(2020 Sep), pp. 1290-1298. [10.1038/s41430-020-0662-z]

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

S. Bertoli
Primo
;
R. De Amicis;A. Sangiorgio;A. Leone;M. Gambino;C. Lessa;A. Battezzati;G.V. Zuccotti;P. Veggiotti
Penultimo
;
C. Mameli
Ultimo
2020

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.
Settore MED/39 - Neuropsichiatria Infantile
Settore MED/49 - Scienze Tecniche Dietetiche Applicate
Settore BIO/09 - Fisiologia
Settore MED/38 - Pediatria Generale e Specialistica
13-mag-2020
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/735670
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