Journal article

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Joerg Klepper, Cigdem Akman, Marisa Armeno, Stephane Auvin, Mackenzie Cervenka, Helen J Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H Kossoff, Wilhelmina G Leen, Baerbel Leiendecker, Umrao R Monani, Hirokazu Oguni, Elizabeth Neal, Juan M Pascual, Toni S Pearson, Roser Pons, Ingrid E Scheffer Show all

EPILEPSIA OPEN | WILEY | Published : 2020

Abstract

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, respo..

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University of Melbourne Researchers