Simona Bertoli1,2, Silvia Masnada3, Ramona De Amicis4, Arianna Sangiorgio5, Alessandro Leone4, Mirko Gambino3, Chiara Lessa4, Anna Tagliabue6, Cinzia Ferraris6, Valentina De Giorgis7,8, Alberto Battezzati4, Gian Vincenzo Zuccotti5, Pierangelo Veggiotti9,10, Chiara Mameli5. 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@unimi.it. 2. Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Milan, Italy. simona.bertoli@unimi.it. 3. Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. 4. 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. 5. Department of Pediatrics, V. Buzzi Children's Hospital, University of Milan, Milan, Italy. 6. Human Nutrition and Eating Disorder Centre, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy. 7. Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Milan, Italy. 8. Department of Child Neurology and Psychiatry, IRCCS "C. Mondino" National Neurological Institute, Pavia, Italy. 9. Pediatric Neurology Unit, "V. Buzzi" Hospital, Milan, Italy. 10. Biomedical and Clinical Sciences Department, L Sacco, University of Milan, Milan, Italy.
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.
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.
Authors: María-José de Castro; Paula Sánchez-Pintos; Nisreem Abdelaziz-Salem; Rosaura Leis; María L Couce Journal: Nutrients Date: 2021-06-20 Impact factor: 5.717