Inborn Metabolic Diseases: Diagnosis and Treatment

A clinical and biochemical approach to the diagnosis and management of IEM

Indispensable for professionals in pediatrics, neonatology, pathological biochemistry, genetics, neurology

Written by internationally recognised experts on their subjects

About this book

Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.

Contents

A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations.

Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. 

Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

Table of Contents:

Pages I-XXXIX

Diagnosis and Treatment: General Principles

Clinical Approach to Inborn Errors of Metabolism in Paediatrics

Jean-Marie Saudubray, Ángeles García-Cazorla

Pages 3-123

Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations

Fanny Mochel, Frédéric Sedel

Pages 125-145

Diagnostic Procedures

Guy Touati, Fanny Mochel, Rafael Artuch

Pages 147-166

Emergency Treatments

Manuel Schiff, Fanny Mochel, Carlo Dionisi-Vici

Pages 167-176

Disorders of Energy Metabolism

The Glycogen Storage Diseases and Related Disorders

John H. Walter, Philippe Labrune, Pascal Laforêt

Pages 179-200

Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling

Jean-Baptiste Arnoux, Pascale de Lonlay

Pages 201-208

Disorders of Glycolysis and the Pentose Phosphate Pathway

Mirjam M. C. Wamelink, Vassili Valayannopoulos, Barbara Garavaglia

Pages 209-223

Disorders of Glucose and Monocarboxylate Transporters

René Santer, Joerg Klepper

Pages 225-238

Disorders of Creatine Metabolism

Sylvia Stöckler-Ipsiroglu, Saadet Mercimek-Andrews, Gajja S. Salomons

Pages 239-245

Disorders of Oxidative Phosphorylation

Shamima Rahman, Johannes A. Mayr

Pages 247-268

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

Michèle Brivet, Pauline Gaignard, Manuel Schiff

Pages 269-286

Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism

Andrew A. M. Morris, Ute Spiekerkoetter

Pages 287-301

Disorders of Ketogenesis and Ketolysis

Andrew A. M. Morris

Pages 303-311

Small Molecule Disorders

Disorders of Galactose Metabolism

Gerard T. Berry, John H. Walter, Judith L. Fridovich-Keil

Pages 315-325

Disorders of Fructose Metabolism

Beat Steinmann, René Santer

Pages 327-336

Hyperphenylalaninaemia

Peter Burgard, Robin H. Lachmann, John H. Walter

Pages 337-354

Small Molecule Disorders

Disorders of Tyrosine Metabolism

Anupam Chakrapani, Paul Gissen, Patrick McKiernan

Pages 355-367

Branched-Chain Organic Acidurias/Acidaemias

Manuel Schiff, Anaïs Brassier, Carlo Dionisi-Vici

Pages 369-389

Disorders of the Urea Cycle and Related Enzymes

Johannes Häberle, Vicente Rubio

Pages 391-405

Disorders of Sulfur Amino Acid Metabolism

Viktor Kožich, Andrew A. M. Morris, Henk J. Blom

Pages 407-422

Disorders of Ornithine and Proline Metabolism

Matthias R. Baumgartner, David Valle, Carlo Dionisi-Vici

Pages 423-436

Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism

Stefan Kölker, Georg F. Hoffmann

Pages 437-457

Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders

Johan L. K. Van Hove, Rudy Van Coster

Pages 459-469

Disorders of Glutamine, Serine and Asparagine Metabolism

Jaak Jaeken, Johannes Häberle, Olivier Dulac

Pages 471-479

Disorders of Amino Acid Transport at the Cell Membrane

Harri Niinikoski, Manuel Schiff, Laura Tanner

Pages 481-492

Cystinosis

Patrick Niaudet

Pages 493-500

Biotin-Responsive Disorders

D. Sean Froese, Matthias R. Baumgartner

Pages 501-510

Disorders of Cobalamin and Folate Transport and Metabolism

Brian Fowler, D. Sean Froese, David Watkins

Pages 511-529

Disorders of Thiamine and Pyridoxine Metabolism

Garry Brown, Barbara Plecko

Pages 531-545

Disorders of Neurotransmission

Ángeles García-Cazorla, Rafael Artuch, Phillip L. Pearl

Pages 547-570

Disorders of Peptide and Amine Metabolism

Ron A. Wevers, Ertan Mayatepek, Valerie Walker

Pages 571-585

Disorders of Purine and Pyrimidine Metabolism

Sandrine Marie, Joseph P. Dewulf, Marie-Cécile Nassogne

Pages 587-614

Disorders of Haem Biosynthesis

Charles Marques Lourenço, Karl E. Anderson

Pages 615-629

Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc

Peter M. van Hasselt, Peter T. Clayton, Roderick H. J. Houwen

Pages 631-651

Complex Molecule Disorders and Cellular Trafficking Disorders

Disorders of Intracellular Triglyceride and Phospholipid Metabolism

Foudil Lamari, Francis Rossignol, Grant A. Mitchell

Pages 655-676

Complex Molecule Disorders and Cellular Trafficking Disorders

Inborn Errors of Lipoprotein Metabolism Presenting in Childhood

Uma Ramaswami, Steve E. Humphries

Pages 677-691

Disorders of Isoprenoid/Cholesterol Synthesis

Hans R. Waterham, Peter T. Clayton

Pages 693-703

Disorders of Bile Acid Synthesis

Peter T. Clayton

Pages 705-718

Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis

Carlos R. Ferreira, Alejandra Darling, Jerry Vockley

Pages 719-734

Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses

Marie T. Vanier, Catherine Caillaud, Thierry Levade

Pages 735-764

Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders

Simon Jones, Frits A. Wijburg

Pages 765-783

Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders

Ronald J. A. Wanders, Marc Engelen, Frédéric M. Vaz

Pages 785-809

Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism

Jaak Jaeken, Eva Morava

Pages 811-832

Disorders of Cellular Trafficking

Ángeles García-Cazorla, Carlo Dionisi-Vici, Jean-Marie Saudubray

Pages 833-858

Appendices

Medications Used in the Treatment of Inborn Errors of Metabolism

Andrew A. M. Morris, Simon Jones

Pages 861-872

Back Matter

Pages 873-894