Article
Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis.
European journal of clinical nutrition - 1 Sept 2020
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
Abstract excerpt
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...
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