Article
Glucose transporter type 1 deficiency syndrome: Phenotypes, molecular findings, and ketogenic therapy implementation in Argentina.
Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2026
Armeno Marisa Laura, Massaro Mario, Boccoli Julia, Caballero Eugenia, Chacon Santiago, Diz Mariana, Espeche Alberto, Fasulo Lorena, Galarza Nadia, Gonzalez Lara, Kobayashi Virginia, Loos Mariana, Semprino Marcos, Veneruzzo Gabriel, Verini Antonella, Caraballo Roberto
Abstract excerpt
OBJECTIVE: Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare metabolic encephalopathy caused by pathogenic SLC2A1 variants. Ketogenic dietary therapy (KDT) is the mainstay of treatment. In Latin America, Glut1DS remains underdiagnosed due to limited awareness and restricted access to genetic testing. This study describes the clinical and genetic features, management, and response to KDT in an...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.