Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute presentation in late infancy and beyond; chronic and progressive disease; and specific organ involvement. In addition a list of important symptoms or signs can be found at the end of the chapter which then refers either to the text, a table, a figure, an algorithm, a list of disorders, or a combination of these.
Reviews
"[This title] is a pleasure to read...Written by clinicians for clinicians... It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles... this is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated." (NEW ENGLAND JOURNAL OF MEDICINE)
Editors and Affiliations
Department of Pediatrics, University Hospital Groningen, Epe, The Netherlands
John Fernandes
Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, Paris Cedex 15, France
Jean-Marie Saudubray
Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Brussels, Belgium
Georges Berghe
Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Pendlebury, Manchester, UK
John H. Walter
Bibliographic Information
Book Title: Inborn Metabolic Diseases
Book Subtitle: Diagnosis and Treatment
Editors: John Fernandes, Jean-Marie Saudubray, Georges Berghe, John H. Walter
