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

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...

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Bibliographic Details
Published in:International journal of epilepsy 2014, Vol.1 (1), p.43-46
Main Authors: Sharma, Suvasini, Jain, Puneet, Prabaharan, Chellamuthu, Hemrom, Jeedan, Kapoor, Seema, Kumari, Chandrawati, Kumar, Atin, Pemde, Harish, Aneja, Satinder
Format: Article
Language:English
Subjects:
Epileptic encephalopathy
Glutaric aciduria
Maple syrup urine disease
Neurology
Short Communication
West syndrome
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Summary: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.
ISSN:2213-6320
2213-6339
DOI:10.1016/j.ijep.2014.03.001