Book Review: Inherited Metabolic Epilepsies

Abstract

Inherited Metabolic Epilepsies, second edition, is a comprehensive text for pediatric neurologists and geneticists that delves into the pathophysiology, diagnostic approach, clinical presentation, treatment, and areas of ongoing study in the field of metabolic epilepsies. Contributions from pediatric neurologists and epileptologists, geneticists, radiologists, basic scientists, and social workers come together to provide multidisciplinary insight into the topic. The current edition has been expanded from the previous edition to now include 6 sections. Part I, “General Principles,” is a well-organized overview of the inherited metabolic epilepsies and provides a framework for clinical reasoning. Classification algorithms and brief synopses of categories of disorders are provided to aid in the diagnostic approach. Tables outlining urine organic acid abnormalities, plasma amino acid findings, and plasma acylcarnitines found in various classes of metabolic disease serve as excellent references for the practicing pediatric neurologist. Part II, “Basic Science,” includes chapters focused on principles and mechanisms of the excitatory/inhibitory imbalance that is responsible for epilepsy and ties this to the pathophysiology of metabolic disease. Although the topics covered in this section are less immediately applicable to clinical practice, they are important for understanding the basic underlying mechanisms of these diseases. Part III, “Clinical Science,” covers a myriad of high-yield topics for the child neurologist. Chapters covering neuroimaging and electroencephalography as tools for the diagnosis of metabolic epilepsy are particularly pertinent for clinical practice, and are packed with representative imaging and EEG findings for various metabolic disorders that may be useful for building pattern recognition. Magnetic resonance spectroscopy (MRS) is highlighted as clinical tool. Genomic studies, transcranial magnetic stimulation, and ketogenic diet are also covered. Part IV, “Small Molecule Diseases,” and Part V, “Large Molecule Diseases,” delve more deeply into pathophysiology, diagnosis, and treatment of specific disorders. Part IV includes 19 chapters in total and covers categories such as amino acid disorders, fatty acid oxidation disorders, urea cycle disorders, mitochondrial disorders, and serine synthesis disorders, among many others. Part V covers disorders of glycosylation, lysosomal storage disorders, peroxisomal disease, and leukodystrophies. Part VI, “Conclusions,” is an eclectic section containing 6 chapters. There is a focus on genetics throughout much of this section, with genetic diagnosis, genetic testing, genetic counseling, and gene therapy all thoroughly discussed. There is additional discussion regarding support and resources for families and children with metabolic epilepsies, covering both financial and psychosocial stressors. The book concludes with a very practical algorithm for the clinical approach to inherited metabolic epilepsies. Overall, this is a well-organized, well-written, and comprehensive reference for neurologists and geneticists that addresses metabolic epilepsies in a multidisciplinary way. Highlights for the pediatric neurologist include Parts I and III. These sections provide an excellent framework for ways of thinking and approaching diagnostic workup when a metabolic epilepsy is suspected. A “Clinical Pearls” section at the end of each chapter nicely summarizes key points. Contributions from authors with backgrounds in genetics and radiology as well as neurology and epilepsy are organized to provide readers of different fields of study the tools to fill gaps in knowledge and provide the best care possible to these often complex patients.