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The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. The

Epilepsy --- Epilepsy. --- Metabolism, Inborn errors of. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Brain --- Developmental disabilities --- Convulsions --- Spasms --- Genetic aspects. --- Disorders --- Diseases

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This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Metabolism, Inborn errors of --- Metabolism, Inborn errors of. --- Diagnosis. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Disorders --- Diseases. --- Clinical biochemistry. --- Pediatrics. --- Medicine --- Biology --- Medical genetics. --- Medical Biochemistry. --- Biomedical Research. --- Medical Genetics. --- Research.

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Metabolism, Inborn errors of --- Metabolism, Inborn Errors. --- Metabolism, Inborn errors of. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Metabolism Errors, Inborn --- Inborn Errors of Metabolism --- Error, Inborn Metabolism --- Errors Metabolism, Inborn --- Errors Metabolisms, Inborn --- Errors, Inborn Metabolism --- Inborn Errors Metabolism --- Inborn Errors Metabolisms --- Inborn Metabolism Error --- Inborn Metabolism Errors --- Metabolism Error, Inborn --- Metabolism Inborn Error --- Metabolism Inborn Errors --- Metabolisms, Inborn Errors --- Metabolic Diseases --- congenital --- biochemistry --- cell biology --- endocrinology --- genetics --- inborn errors --- neonatalogy --- Genetic disorders --- Metabolism --- Disorders --- Metabolic & Nutritional Diseases --- Human medicine

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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Metabolism, Inborn errors of. --- Metabolism --- Disorders. --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Disorders --- Human genetics. --- Metabolic diseases. --- Pediatrics. --- Human physiology. --- Human Genetics. --- Metabolic Diseases. --- Human Physiology. --- Human biology --- Medical sciences --- Physiology --- Human body --- Paediatrics --- Pediatric medicine --- Medicine --- Children --- Genetics --- Heredity, Human --- Physical anthropology --- Health and hygiene

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This practical book describes only neurometabolic hereditary diseases which have a specific treatment and encourages the general neurologist to think of the most common neurometabolic hereditary diseases, which he might have seen and never considered in the differential diagnosis. Information regarding how to deal with diseases with special therapy is provided (i.e. enzymatic replacement therapy in Fabry disease and Pompe disease), as is information on diseases which are not easily recognized (i.e. Niemann-Pick disease type C), and diseases with clinical features mimicking other common neurodegenrative diseases (i.e. Wilson's disease). Neurometabolic Hereditary Diseases is written with a clinical focus for adult neurologists working in general hospitals.

Medicine. --- Neuroradiology. --- Metabolic diseases. --- Neurology. --- Medicine & Public Health. --- Metabolic Diseases. --- Metabolism, Inborn errors of. --- Metabolism --- Disorders --- Genetic aspects. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Anabolism --- Catabolism --- Metabolism, Primary --- Primary metabolism --- Biochemistry --- Physiology --- Radiology, Medical. --- Clinical radiology --- Radiology, Medical --- Radiology (Medicine) --- Medical physics --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Medicine --- Nervous system --- Neuropsychiatry --- Neurology . --- Neuroradiography --- Neuroradiology