William L Nyhan – författare

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.Key Features• Fully updated to incorporate all new developments in the field• Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others• Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management• Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicabilityThe fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.