Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4318498 | International Journal of Epilepsy | 2014 | 4 Pages |
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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Authors
Suvasini Sharma, Puneet Jain, Chellamuthu Prabaharan, Jeedan Hemrom, Seema Kapoor, Chandrawati Kumari, Atin Kumar, Harish Pemde, Satinder Aneja,