Inherited Metabolic Epilepsies

Abstract

Anyone who has struggled with determining the etiology of intractable seizures in a newborn or infant, and then treating the child effectively (each of us!), has undoubtedly bemoaned the absence of a unified source of up-to-date information about the multitude of potential metabolic causes. Rest assured that this information gap has now been filled, admirably, by Dr. Phillip Pearl's multiauthored book, Inherited Metabolic Epilepsies. Dr. Pearl has edited a beautifully written and illustrated volume that brings together international experts to discuss the metabolic seizure diagnoses that “you cannot afford to miss,” many of them eminently treatable if diagnosed accurately and early. The first part of the book covers techniques useful in the evaluation of inherited metabolic epilepsies, including neuroimaging, electrophysiology, and genetic testing. Expanded coverage is then provided about individual disorders of small and large molecules, including organic and amino acid disorders, mitochondrial diseases, pyridoxine-dependent epilepsies, disorders of gamma-amino butyric acid metabolism such as succinic semialdehyde dehydrogenase deficiency, leukodystrophies and peroxisomal disorders, to name a few. The clinical features, pathophysiology, diagnostic workup, and management options for each disorder are presented in a clear fashion. A theme running through the book is the ever-increasing understanding of the genetic basis of these disorders, which might eventually lead to targeted or personalized therapies for some of them. Optimal treatment of seizures in metabolic disorders often requires more than standard antiepileptic drugs. The book concludes with a concise clinical algorithm for approaching a child with suspected metabolic basis for seizures, which is quite helpful, though an expanded version of this approach, including when to consider a metabolic etiology, would be even more useful.