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Int. J. Mol. Sci. 2017, 18(7), 1384; doi:10.3390/ijms18071384

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

1
Department of Pediatrics, Lady Hardinge Medical College, New Delhi 110001, India
2
Department of Pediatrics and Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Children’s Hospital of Western Ontario and London Health Sciences Centre, London, ON N6A5W9, Canada
*
Author to whom correspondence should be addressed.
Received: 18 April 2017 / Revised: 21 June 2017 / Accepted: 23 June 2017 / Published: 2 July 2017
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Abstract

Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term “metabolic epilepsy” can be used to include these conditions. These epilepsies can present across the life span, and share features of refractoriness to anti-epileptic drugs, and are often associated with co-morbid developmental delay/regression, intellectual, and behavioral impairments. Some of these disorders are amenable to specific treatment interventions; hence timely and appropriate diagnosis is critical to improve outcomes. In this review, we discuss those disorders in which epilepsy is a dominant feature and present an approach to the clinical recognition, diagnosis, and management of these disorders, with a greater focus on primarily treatable conditions. Finally, we propose a tiered approach that will permit a clinician to systematically investigate, identify, and treat these rare disorders. View Full-Text
Keywords: inborn errors of metabolism; epilepsy; seizures; pyridoxine dependent epilepsy; glucose transporter defect; genetic; biochemical testing inborn errors of metabolism; epilepsy; seizures; pyridoxine dependent epilepsy; glucose transporter defect; genetic; biochemical testing
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Sharma, S.; Prasad, A.N. Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches. Int. J. Mol. Sci. 2017, 18, 1384.

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