Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/24822
Title: Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Austin Authors: Klepper, Joerg;Akman, Cigdem;Armeno, Marisa;Auvin, Stéphane;Cervenka, Mackenzie;Cross, Helen J;De Giorgis, Valentina;Della Marina, Adela;Engelstad, Kristin;Heussinger, Nicole;Kossoff, Eric H;Leen, Wilhelmina G;Leiendecker, Baerbel;Monani, Umrao R;Oguni, Hirokazu;Neal, Elizabeth;Pascual, Juan M;Pearson, Toni S;Pons, Roser;Scheffer, Ingrid E ;Veggiotti, Pierangelo;Willemsen, Michél;Zuberi, Sameer M;De Vivo, Darryl C
Affiliation: Children's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany
Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA
Florey and Murdoch Institutes and Royal Children's Hospital The University of Melbourne Melbourne Victoria Australia
Department of Nutrition Hospital Pediatria JP Garrahan Buenos Aires Argentina
Department of Pediatric Neurology CHU Hôpital Robert Debre APHP Paris France
Department of Neurology Comprehensive Epilepsy Center Johns Hopkins University School of Medicine Baltimore MD USA
UCL NIHR BRC Great Ormond Street Institute of Child Health London UK
Department of Child Neurology and Psychiatry IRCCS Mondino Foundation Pavia Italy
Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg-Essen Essen Germany
Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA
Department of Pediatric Neurology Paracelsus Medical Private University Nuremberg Germany
Departments of Neurology and Pediatrics Johns Hopkins University Baltimore MD USA
Department of Neurology Canisius Wilhemina Hospital Nijmegen The Netherlands
Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg-Essen Essen Germany
Center for Motor Neuron Biology & Disease Departments of Neurology and Pathology & Cell Biology Columbia University Irving Medical Center New York NY USA
Department of Pediatrics Tokyo Women's Medical University Tokyo Japan
Matthew's Friends Charity & Clinics Lingfield UK
Departments of Neurology and Neurotherapeutics, Physiology and Pediatrics Eugene McDermott Center for Human Growth and Development The University of Texas Southwestern Medical Center Dallas TX USA
Mount Sinai Center for Headache & Pain Medicine New York NY USA
First Department of Pediatrics Agia Sofia Hospital University of Athens Athens Greece
Pediatric Neurology V. Buzzi Hospital Child Neuropsychiatry University of Milan Milan Italy
Department of Pediatric Neurology Radboud University Medical Centre Amalia Children's Hospital Nijmegen Netherlands
Royal Hospital for Children & College of Medical Veterinary & Life Sciences University of Glasgow Glasgow UK
Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA
Medicine (University of Melbourne)
Austin Health
Issue Date: Sep-2020
Date: 2020
Publication information: Epilepsia open 2020; 5(3): 354-365
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, responses to a standardized questionnaire, and serial discussions of wide-ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants. KDT represent standard choices with Glut1DS-specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function. Clinical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long-term disease burden. Impaired development of the brain microvasculature is one such complication of delayed Glut1DS treatment in the postnatal period. This international consensus statement should facilitate prompt diagnosis and guide best standard of care for Glut1DS throughout the life cycle.
URI: https://ahro.austin.org.au/austinjspui/handle/1/24822
DOI: 10.1002/epi4.12414
ORCID: 0000-0003-3741-025X
0000-0002-6776-6380
0000-0003-3874-9749
Journal: Epilepsia open
PubMed URL: 32913944
ISSN: 2470-9239
Type: Journal Article
Subjects: Glut1
Glut1 Deficiency Syndrome
Glut1D
Glut1DS
children
consensus
diet
epilepsy
glucose transport
guideline
ketogenic
Appears in Collections:Journal articles

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