Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
AbstractInborn 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
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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.
Sharma S, Prasad AN. Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches. International Journal of Molecular Sciences. 2017; 18(7):1384.Chicago/Turabian Style
Sharma, Suvasini; Prasad, Asuri N. 2017. "Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches." Int. J. Mol. Sci. 18, no. 7: 1384.
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