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CC BY-NC-ND 4.0 · International Journal of Epilepsy 2014; 01(01): 043-046
DOI: 10.1016/j.ijep.2014.03.001
DOI: 10.1016/j.ijep.2014.03.001
Short Communication
Epilepsy in inborn errors of metabolism: two cases with unusual presentation
Verantwortlicher Herausgeber dieser Rubrik:
Weitere Informationen
Publikationsverlauf
Received: 10. September 2013
Accepted: 21. März 2014
Publikationsdatum:
04. Mai 2018 (online)
Abstract
Inherited metabolic disorders are a rare cause of epilepsy in children. We describe a case of Glutaric aciduria type 1 presenting with West syndrome and a case of intermittent Maple syrup urine disease presenting with epileptic encephalopathy. Early diagnosis and institution of appropriate therapy may be life saving and may improve the long term neurodevelopmental outcome in children with inherited metabolic disorders.
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