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This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications. Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles. Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. The Editors Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.

Medicine. --- Human genetics. --- Endocrinology. --- Neurology. --- Pediatrics. --- Medicine & Public Health. --- Human Genetics. --- Paediatrics --- Pediatric medicine --- Clinical sciences --- Medical profession --- Metabolism --- Disorders. --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Medicine --- Nervous system --- Neuropsychiatry --- Internal medicine --- Hormones --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Children --- Health and hygiene --- Endocrinology . --- Neurology .

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Paediatrics --- Human genetics --- Pathological endocrinology --- Neuropathology --- medische genetica --- hersenen --- endocrinologie --- genetica --- pediatrie

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This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications. Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles. Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. The Editors Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.

Paediatrics --- Human genetics --- Pathological endocrinology --- Neuropathology --- vetzuren --- medische genetica --- hersenen --- endocrinologie --- genetica --- pediatrie --- aminozuren

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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.

Paediatrics --- Human genetics --- Pathological endocrinology --- Neuropathology --- medische genetica --- hersenen --- endocrinologie --- genetica --- pediatrie