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.
• 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.
Table of Contents
Part 1: Organic Acidemias. Part 2: Disorders of Amino Acid Metabolism. Part 3: Hyperammonemia and Disorders of the Urea Cycle. Part 4: Disorders of Fatty Acid Oxidation. Part 5: The Lactic Acidemias and Mitochondrial Disease. Part 6: Disorders of Carbohydrate Metabolism. Part 7: Peroxisomal Disorders. Part 8: Disorders Of Purine And Pyridine Metabolism. Part 9: Mucopolysaccharidoses. Part 10: Mucolipidosis. Part 11: Disorders Of Cholesterol And Neutral Lipid Metabolism. Part 12: Lipid Storage Disorders. Part 13: Miscellaneous.
William L. Nyhan, MD, PhD, is Professor of Pediatrics and Founding Director of The William L. Nyhan Biochemical Genetics and Metabolomics Laboratory at the University of California, San Diego.
Georg F. Hoffmann, MD, is Professor of Pediatrics and Chairman of the University Children’s Hospital and Head of the Center of Rare Diseases at the University Clinic Heidelberg in Heidelberg, Germany.
Aida I. Al-Aqeel and Bruce A. Barshop have also provided contributions.
"In the library of inherited metabolic diseases, it is a case sui generis in describing single disorders or groups of disorders concisely … in text, tables, graphs, references, and a unique collection of pictures"
-Georg F. Hoffmann Univ.-Prof. Dr. med., Prof. h.c. mult. (RCH)
Chairman/Department of Pediatrics, University of Heidelberg