RT Journal Article
T1 The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
A1 Sanchez-Lijarcio, Obdulia
A1 Yubero, Delia
A1 Leal, Fatima
A1 Couce, Maria L
A1 Gonzalez Gutierrez-Solana, Luis
A1 Lopez-Laso, Eduardo
A1 Garcia-Cazorla, Angels
A1 Pias-Peleteiro, Leticia
A1 de Azua Brea, Begoña
A1 Ibañez-Mico, Salvador
A1 Mateo-Martinez, Gonzalo
A1 Troncoso-Schifferli, Monica
A1 Witting-Enriquez, Scarlet
A1 Ugarte, Magdalena
A1 Artuch, Rafael
A1 Perez, Belen
K1 GLUT1
K1 GLUT1DS
K1 SLC2A1
K1 Hypoglycorrhachia
AB Glucose 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.
PB Wiley
YR 2022
FD 2022-03-31
LK http://hdl.handle.net/10668/19926
UL http://hdl.handle.net/10668/19926
LA en
NO Sánchez-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):40-55
DS RISalud
RD Apr 19, 2025