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 therapy may be life saving and may improve the long term neurodevelopmental outcome in children with inherited metabolic disorders.

Keywords

Glutaric aciduria - Maple syrup urine disease - Epileptic encephalopathy - West syndrome

• References

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