Epilepsy in inborn errors of metabolism: two cases with unusual presentation

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.

Source: International Journal of Epilepsy - November 4, 2014 Category: Neurology Source Type: research