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 second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

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 second edition of this highly regarded book, auth

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

The pathways and networks underlying biological function Now in its second edition, Biochemical Pathways continues to garner praise from students, instructors, and researchers for its clear, full-color illustrations of the pathways and networks that determine biological function. Biochemical Pathways examines the biochemistry of bacteria, plants, and animals. It offers a quick overview of the metabolic sequences in biochemical pathways, the chemistry and enzymology of conversions, the regulation of turnover, the expression of genes, the immunological interactions, and the metabolic background of health disorders. A standard set of conventions is used in all illustrations, enabling readers to easily gather information and compare the key elements of different biochemical pathways. For both quick and in-depth understanding, the book uses a combination of: Illustrations integrating many different features of the reactions and their interrelationships Tables listing the important system components and their function Text supplementing and expanding on the illustrated facts In the second edition, the volume has been expanded by 50 percent. Text and figures have undergone a thorough revision and update, reflecting the tremendous progress in biochemical knowledge in recent years. A guide to the relevant biochemical databases facilitates access to the extensive documentation of scientific knowledge. Biochemical Pathways, Second Edition is recommended for all students and researchers in such fields as biochemistry, molecular biology, medicine, organic chemistry, and pharmacology. The book's illustrated pathways aids the reader in understanding the complex set of biochemical reactions that occur in biological systems. From the reviews: “... highly recommended for every scientist and student working in biochemistry.” –Umwelt & Gesundheit 4/2012 (review in German language)

The Metabolic Syndrome is a valuable reference text, covering all aspects of the metabolic syndrome and its constituent diseases including inflammation, oxidation and adipocytokines. This book explains the aetiology, pathogenesis and clinical treatment of all risk factors as well as the relationship with diabetes, non alcoholic fatty liver disease, polycystic ovary syndrome and coronary heart disease. The Metabolic Syndrome has been further improved from the 1st edition that was highly commended in 2006 Annual British Medical Association medical books competition. All chapters from the first edition are fully updated and this new edition contains an increase in international contributions and five new chapters on: Childhood obesity and metabolic syndrome Bariatric surgery for obesity Fitness Brain insulin resistance and appetite The nature of the insulin resistance seen in metabolic syndrome. This brand new edition of The Metabolic Syndrome will be an indispensable resource for all clinical researchers, physicians and scientists requiring detailed up-to-date information on the metabolic syndrome to further their own research or to treat and manage the syndrome and its complications. Specifically, the text will be of particular relevance to those involved and working in the fields of diabetes, endocrinology, obesity, cardiology, vascular disease and hepatology.

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 applicability The 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.