Inherited Metabolic Diseases + Ereference ─ A Clinical Approach

This book focuses on clinical presentations that may be caused by inheritedmetabolic diseases. Its symptom- and system-based approach will help clinicianswith and without detailed knowledge of human biochemistry in all specialties toreach a correct diagnosis and institute the optimal treatment program. The booksummarizes the central elements of inherited metabolic diseases and describesclearly how to carry out an efficient yet complete diagnostic work-up, therebyguiding the clinician from the presenting symptoms and signs through toeffective initial management. After an introduction to the different disorders,the book explains when to consider an inborn metabolic error and which initialtests to order. Core aspects such as structured communication, guidelines,transition, pregnancy, maternal care and how to respond to various medicalemergencies are covered. Therapeutic concepts such as dietary treatment aredelineated and practical advice provided on the quite different treatmentapproaches required for individual diseases. An extensive section structuredaccording to organ systems outlines the correct approach in the context ofspecific symptoms and signs. The value of each of the potential investigationsis explained, with precise advice on the interpretation of results. Theinclusion of algorithms, tables, lists, and charts facilitates rapid decisionmaking and information retrieval, and the appendices include a helpful guide todifferential diagnosis based on clinical and biochemical phenotypes. This newupdated edition of Inherited Metabolic Diseases will be an invaluable aid forthe busy clinician and an excellent quick reference for metabolic and geneticspecialists.

Georg F. Hoffmann, Dr.med.habil, MD, is Professor and Chairman of the University Childrens Hospital Heidelberg, Head of the Metabolic Center including the Newborn Screening Laboratory as well as Head of the Center for Rare Diseases, Medical Center University of Heidelberg Germany. He has been working in the field of diagnosis and treatment of patients with inherited metabolic diseases for over 30 years with the main emphasis on newborn screening as well as clinical and laboratory research on neurometabolic and intoxication type disorders (neurotransmitter defects, aminoacidopathies, organoacidopathies, and urea cycle disorders).

Johannes Zschocke, Dr.med.habil, PhD is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria, and is Director of the Division for Human Genetics and the Center for Medical Genetics Innsbruck. He has longstanding clinical and research experience in inherited metabolic diseases, with special expertise in genetic diagnosis and genotype-phenotype correlations. 

William L. Nyhan, MD, PhD is Distinguished Professor of Pediatrics and Director of the Biochemical Genetics Laboratory at the University of California San Diego. He is the author of 655 publications, including the Atlas of Inherited Metabolic Diseases and is a Board Member of Lesch-Nyhan Syndrome Children’s Research Foundation, 1995 to present.