PT  - JOURNAL ARTICLE
AU  - Hundallah, Khalid
AU  - Tabarki, Brahim
TI  - Treatable inherited metabolic epilepsies
AID  - 10.17712/nsj.2021.3.20210077
DP  - 2021 Jul 01
TA  - Neurosciences Journal
PG  - 229--235
VI  - 26
IP  - 3
4099  - http://nsj.org.sa/content/26/3/229.short
4100  - http://nsj.org.sa/content/26/3/229.full
SO  - Neurosciences (Riyadh)2021 Jul 01; 26
AB  - 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.