Inborn Metabolic Diseases. Diagnosis and Treatment

I Diagnosis and treatment: General principles:

• 1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures.- 4 Emergency Treatments

 

II Disorders of Energy Metabolism

• 5 The Glycogen Storage Diseases and Related Disorders.- 6 Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Glucose and Monocarboylic Acid Monocarboxylate Transporters.- 9 Disorders of Creatine Metabolism.- 10 Disorders of the Oxidative Phosphorylation .- 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation and Riboflavin Metabolism.- 13 Disorders of Ketogenesis and Ketolysis

 

III Small Molecule Disorders

• 14 Disorders of Galactose Metabolism.- 15 Disorders of Fructose Metabolism.- 16  Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19 Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21 Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders.- 24 Disorders of Glutamine, Serine and Asparagine Metabolism.- 25 Disorders of Amino Acid Transport at the Cell Membrane.- 26 Cystinosis.- 27 Biotin-Responsive Disorders.- 28 Disorders of Cobalamin and Folate Transport and Metabolism.- 29 Disorders of Thiamine and Pyridoxine Metabolism.- 30 Disorders of Neurotransmission.- 31 Disorders of Peptide and Amine Metabolism.- 32 Disorders of Purine and Pyrimidine Metabolism.- 33 Disorders of Haem Biosynthesis.- 34 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc

 

IV Complex Molecule Disorders and Cellular Trafficking Disorders

• 35 Disorders of intracellular triglycerides and phospholipid metabolism.- 36 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 37 Disorders of Isoprenoid/Cholesterol Synthesis.- 38 Disorders of Bile Acid Synthesis.- 39 Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis.- 40 Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid- Lipofuscinoses.- 41 Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 42 Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders.- 43 Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism.- 44 Disorders of Cellular Trafficking

 

V Appendices

• 45 Medications Used in the Treatment of Inborn Errors

NOTA DE PRESENTACIÓN, 7ª EDICIÓN DEL LIBRO

“Inborn Metabolic Diseases: diagnosis and treatment”

Eds: Saudubray JM, Baumgartner M, García-Cazorla A y Walter J.

Springer, 2022

 

La séptima edición del libro “Inborn Metabolic Diseases: diagnosis and treatment”, considerado el tratado de referencia internacional en enfermedades metabólicas hereditarias, supone todo un logro y un acontecimiento significativo.

 

Lo que hace especial a esta edición es en realidad la gran transformación que ha experimentado el campo de los errores innatos del metabolismo durante los últimos cinco años. De hecho, podríamos hablar de una “Revolución Copernicana” que ha cambiado conceptos, la clasificación de estas enfermedades, más de 1500 en la actualidad, y ha introducido nuevos paradigmas de conocimiento. Esta nueva edición incluye numerosas enfermedades genéticas que producen disrupciones de mecanismos cruciales en biología celular que aún no tienen biomarcadores pero que afectan procesos bioquímicos de modo fundamental.

 

El libro desarrolla una aproximación clínica y bioquímica al diagnóstico y manejo de los errores innatos del metabolismo con múltiples algoritmos para pacientes de todas las edades. Las manifestaciones neurológicas, dada su prevalencia en prácticamente un 80% del conjunto de enfermedades metabólicas, se abordan con especial detalle.

 

La estructura del libro se basa en las tres principales categorías de la clasificación simplificada: pequeñas moléculas, moléculas complejas y metabolismo energético.

 

Además, se han incluido temas muy novedosos como los defectos del tráfico celular y del metabolismo del ADN y el ARN, lo cual incluye alrededor de 600 enfermedades no consideradas en previas ediciones.

 

Los editores y autores del libro esperamos que éste sea de máximo interés y utilidad para profesionales interesados en esta fascinante área de la medicina y la biología.

 

Dra. A. García-Cazorla.

Unidad de Enfermedades Metabólicas y Departamento de Neurología, IPR, CIBERER y MetabERN. Hospital Sant Joan de Déu, Barcelona.

 

 

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.

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.

The book presents 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. It includes separate, comprehensive sections on IEM 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 were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

AUTHORS

Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris.

Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich.

Angeles Garcia-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Deu, Barcelona.

John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.