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Treatable inherited metabolic epilepsies

Inherited metabolic diseases usually present a complex clinical picture in which seizures are one of various neurological manifestations, which include developmental delays/regression, acute encephalopathy, neuropsychiatric manifestations, and movement disorders. However, a seizure can be the promin...

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Detalles Bibliográficos
Autores principales: Hundallah, Khalid, Tabarki, Brahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926125/
https://www.ncbi.nlm.nih.gov/pubmed/34230076
http://dx.doi.org/10.17712/nsj.2021.3.20210077
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author Hundallah, Khalid
Tabarki, Brahim
author_facet Hundallah, Khalid
Tabarki, Brahim
author_sort Hundallah, Khalid
collection PubMed
description Inherited metabolic diseases usually present a complex clinical picture in which seizures are one of various neurological manifestations, which include developmental delays/regression, acute encephalopathy, neuropsychiatric manifestations, and movement disorders. However, a seizure can be the prominent feature in inherited metabolic disease. The specific diagnosis of an underlying inherited metabolic disorder in epileptic patients may help design specific treatments that can improve the seizures and stop neurodegeneration. In several inherited metabolic diseases such as vitamin-responsive epilepsies and other metabolic epilepsies, seizures are refractory to antiseizure medications but respond to specific treatments based on vitamin and cofactor supplementation or diet. This review discusses our current understanding of these inherited metabolic disorders associated with epilepsy, where early diagnosis and treatment initiation will significantly improve the outcome.
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spelling pubmed-89261252022-03-24 Treatable inherited metabolic epilepsies Hundallah, Khalid Tabarki, Brahim Neurosciences (Riyadh) Review Inherited metabolic diseases usually present a complex clinical picture in which seizures are one of various neurological manifestations, which include developmental delays/regression, acute encephalopathy, neuropsychiatric manifestations, and movement disorders. However, a seizure can be the prominent feature in inherited metabolic disease. The specific diagnosis of an underlying inherited metabolic disorder in epileptic patients may help design specific treatments that can improve the seizures and stop neurodegeneration. In several inherited metabolic diseases such as vitamin-responsive epilepsies and other metabolic epilepsies, seizures are refractory to antiseizure medications but respond to specific treatments based on vitamin and cofactor supplementation or diet. This review discusses our current understanding of these inherited metabolic disorders associated with epilepsy, where early diagnosis and treatment initiation will significantly improve the outcome. Riyadh : Armed Forces Hospital 2021-07 /pmc/articles/PMC8926125/ /pubmed/34230076 http://dx.doi.org/10.17712/nsj.2021.3.20210077 Text en Copyright: © Neurosciences https://creativecommons.org/licenses/by-nc/3.0/Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.
spellingShingle Review
Hundallah, Khalid
Tabarki, Brahim
Treatable inherited metabolic epilepsies
title Treatable inherited metabolic epilepsies
title_full Treatable inherited metabolic epilepsies
title_fullStr Treatable inherited metabolic epilepsies
title_full_unstemmed Treatable inherited metabolic epilepsies
title_short Treatable inherited metabolic epilepsies
title_sort treatable inherited metabolic epilepsies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926125/
https://www.ncbi.nlm.nih.gov/pubmed/34230076
http://dx.doi.org/10.17712/nsj.2021.3.20210077
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