Bertoli Simona, Masnada Silvia, De Amicis Ramona, Sangiorgio Arianna, Leone Alessandro, Gambino Mirko, Lessa Chiara, Tagliabue Anna, Ferraris Cinzia, De Giorgis Valentina, Battezzati Alberto, Zuccotti Gian Vincenzo, Veggiotti Pierangelo, Mameli Chiara
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.
Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Obesity Unit and Laboratory of Nutrition and Obesity Research, Milan, Italy.
Eur J Clin Nutr. 2020 Sep;74(9):1290-1298. doi: 10.1038/s41430-020-0662-z. Epub 2020 May 13.
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.
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.
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.
背景/目的：葡萄糖转运蛋白1缺乏综合征（GLUT1-DS；OMIM #606777）是一种罕见疾病，由编码GLUT1的SLC2A1基因显性突变引起，GLUT1是一种普遍存在的葡萄糖跨质膜转运蛋白，尤其是跨血脑屏障的转运蛋白。脑脊液低糖症状是GLUT1-DS的关键特征，但也有人提出存在生长发育迟缓的情况。这促使我们在诊断时研究30例GLUT-DS患者的血糖/脑脊液糖比值与营养和生长模式表型之间的关系。
对象/方法：通过人体测量和双能X线吸收法评估体重（BW）、身长/身高（BL、BH）和身体成分，并将结果与出生时的BL和BW、遗传指标、血糖、胰岛素血症和脑脊液糖值进行综合分析。
出生时，21%的患者BW低于-1.645标准差，而无患者BL低于参考值。诊断时，23%的患者营养状况受损，其中19.2%体重过轻，3.8%超重/肥胖；10%的患者（均未满10岁）BL/BH低于-1.645标准差，且与身体成分无特定关联。最后，血糖、脑脊液糖与生长表型之间无关联。
GLUT1-DS与出生时BW受损有关，但与BL宫内生长无关，其生长模式比正常情况缓慢而非生长失败。这些数据可能有助于解释生酮饮食的任何长期影响，例如营养和生长模式下降。
