Sanchez-Lijarcio, ObduliaYubero, DeliaLeal, FatimaCouce, Maria LGonzalez Gutierrez-Solana, LuisLopez-Laso, EduardoGarcia-Cazorla, AngelsPias-Peleteiro, Leticiade Azua Brea, BegoñaIbañez-Mico, SalvadorMateo-Martinez, GonzaloTroncoso-Schifferli, MonicaWitting-Enriquez, ScarletUgarte, MagdalenaArtuch, RafaelPerez, Belen2023-05-032023-05-032022-03-31Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, et al. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. Clin Genet. 2022 Jul;102(1):40-55http://hdl.handle.net/10668/19926Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.enAttribution-Non-commercial 4.0 Internationalhttps://creativecommons.org/licenses/by-nc/4.0/GLUT1GLUT1DSSLC2A1HypoglycorrhachiaCarbohydrate metabolism, inborn errorsGenetic testingGlucose transporter type 1HumansMonosaccharide transport proteinsThe clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.research article35388452open accessErrores innatos del metabolismo de los carbohidratosProteínas de transporte de monosacáridosPruebas genéticasTransportador de glucosa de tipo 110.1111/cge.141381399-0004PMC9325084https://repositorio.uam.es/bitstream/10486/703109/1/clinical_sanchez_clin_genet_2022.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325084/pdf