Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal.

Autor: Falsaperla R; Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco,' San Marco Hospital, University of Catania, Catania, Italy.; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco,' San Marco Hospital, University of Catania, Catania, Italy.; Department of Medical Sciences-Pediatric Section, University of Ferrara, Ferrara, Italy., Sortino V; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco,' San Marco Hospital, University of Catania, Catania, Italy., Kluger GJ; Epilepsy Center for Children and Adolescents, Schön Clinic Vogtareuth, Vogtareuth, Germany., Herberhold T; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany., Rüegger A; Department of Neuropediatrics, University Children's Hospital Zurich, Zurich, Switzerland., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini', Full Member of ERN-Epicare, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy., Klepper J; Klinikum Aschaffenburg-Alzenau, Aschaffenburg, Germany., Ramantani G; Department of Neuropediatrics, University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich, Zurich, Switzerland.
Jazyk: angličtina
Zdroj: Epilepsia open [Epilepsia Open] 2024 Dec 06. Date of Electronic Publication: 2024 Dec 06.
DOI: 10.1002/epi4.13110
Abstrakt: Glucose transporter type 1 deficiency syndrome (GLUT1DS) commonly presents with early-onset epilepsy that often resists conventional pharmacological treatment. Ketogenic diet therapy (KDT) is the preferred approach to address the underlying metabolic anomaly. However, a subset of GLUT1DS patients presents resistance to KDT, with the causes remaining elusive. This comprehensive literature review aims to explore the characteristics of KDT failure in GLUT1DS and identify risk factors within this population. Our goal is to improve counseling and prognostication for these patients. So, we conducted a comprehensive literature review on PubMed, focusing on studies documenting pediatric GLUT1DS patients with drug-resistant epilepsy unresponsive to KDT. We identified five cases of KDT failure in female GLUT1DS patients, aged 10 days to 13 years at diagnosis. Predominant seizure types were absence seizures, with a few cases of clonic, tonic, or myoclonic seizures. EEG consistently revealed 2-3.5 Hz generalized spike-and-wave discharges. Genetic investigations revealed point mutations and deletions in two cases each. Despite an in-depth search, no specific features were found to reliably distinguish KDT non-responders from responders, underscoring the need for further research. In cases of KDT ineffectiveness for seizure control in GLUT1DS patients, exploring alternative therapeutic strategies becomes imperative to managing symptoms while maintaining quality of life. Large-scale multicenter studies, facilitated through international collaborations like the European Network for Therapy in Rare Epilepsies (NETRE), hold promise in elucidating the complexities of this patient population and developing personalized therapeutic approaches. PLAIN LANGUAGE SUMMARY: Glucose transporter type 1 deficiency syndrome often causes difficult-to-treat epilepsy. The ketogenic diet works for many patients, but some do not respond. This review investigated cases of diet failure but could not identify common features among poor responders. Further research is needed to understand these cases and explore alternative treatments.
(© 2024 The Author(s). Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)
Databáze: MEDLINE
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