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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Bibliographic Details
Published in:Neurosciences (Riyadh, Saudi Arabia) Saudi Arabia), 2021-07, Vol.26 (3), p.229-235
Main Authors: Hundallah, Khalid, Tabarki, Brahim
Format: Article
Language:English
Subjects:
Care and treatment
Epilepsy
Epilepsy - diagnosis
Epilepsy - therapy
Genetic aspects
Humans
Metabolic Diseases - complications
Metabolic Diseases - diagnosis
Movement disorders
Neurophysiology
Review
Sapropterin dihydrochloride
Seizures
Seizures (Medicine)
Vitamins
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Summary: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.
ISSN:1319-6138
1319-6138
DOI:10.17712/nsj.2021.3.20210077