Metabolic Epilepsy
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REVIEW ARTICLE
Metabolic Epilepsy Chaithanya Reddy 1 & Arushi Gahlot Saini 1 Received: 24 February 2020 / Accepted: 17 September 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Inborn errors of metabolism have been considered as an infrequent cause of epilepsy. Improvement in diagnostics has improved the detection of a metabolic basis of recurrent seizures in neonates and children. The term 'metabolic epilepsy' is used to suggest inherited metabolic disorders with predominant epileptic manifestations as well as those where epilepsy is part of the overall neurological phenotype. Several of these disorders are treatable, and the physician should bear in mind the classical ages of presentation. As there are no specific clinical or electrographic features suggestive of metabolic epilepsies, an early suspicion is based on clinical and laboratory clues. Fortunately, with the advancement of gene sequencing technology, a diagnosis of these rare conditions is more straightforward and may not require invasive procedures such as biopsies, multiple metabolic stressinduced testing for abnormalities, and cerebrospinal fluid analysis. A gene panel may suffice in most cases and can be done from a blood sample. In many countries, many treatable metabolic disorders are now part of the neonatal screen. Early diagnosis and treatment of these disorders can result in the prevention of a full-scale metabolic crisis and improvement of neurological outcomes. Long-term neurological outcomes are variable and additional therapies may be required. Keywords Metabolic epilepsy . Inborn error of metabolism . Epilepsy . Seizures . Neurometabolic
Introduction Although inborn errors of metabolism (IEMs) are a relatively infrequent cause of epilepsy, epileptic seizures are a common manifestation in several IEMs. The term 'metabolic epilepsy' has been used to connote epileptic seizures in two scenarios: (1) where epilepsy is a predominant manifestation as commonly seen in newborns and infants, and (2) where epileptic seizures occur in association with an IEM, especially during the periods of decompensation or acute deterioration [1]. A recent review of studies from 2012 to 2016 concluded that IEMs constitute a considerable proportion (42%) of all identified monogenic diseases associated with epilepsy or seizures [2]. Amongst these, disorders of energy metabolism (31%), amino-acidopathies (15%), congenital disorders of glycosylation (CDG) (14.5%), and lysosomal disorders (12%) were
* Arushi Gahlot Saini [email protected] 1
Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education & Research, 160012 Chandigarh, India
most common [2]. In the current review, metabolic epilepsy refers to both these scenarios; however, the discussion focusses on the treatable pediatric disorders relevant to the practicing pediatrician.
Pathophysiology of Epilepsy in IEMs Interference with brain metabolism is the key pathophysiological mechanism in metabolic epilepsies. These metabolic derangements depend on the function of
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