Inborn Metabolic Diseases
Diagnosis and Treatment
(Sprache: Englisch)
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...
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Klappentext zu „Inborn Metabolic Diseases “
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.
Inhaltsverzeichnis zu „Inborn Metabolic Diseases “
Section I Diagnosis and Treatment: General Principles1 Clinical Approach to Inborn Errors of Metabolism.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures: Functional Tests and Post-mortem Protocol.- 4 Emergency Treatments
Section II Disorders of Carbohydrate Metabolism
5 The Glycogen Storage Diseases and Related Disorders.- 6 Disorders of Galactose Metabolism.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Fructose Metabolism.- 9 Persistent Hyperinsulinaemic Hypoglycaemia.- 10 Disorders of Glucose Transport
Section III Disorders of Mitochondrial Energy Metabolism
11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation.- 13 Disorders of Ketogenesis and Ketolysis.- 14 Disorders of the Respiratory Chain.- 15 Creatine Deficiency Syndromes<Section IV Disorders of Amino Acid Metabolism and Transport
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 (Glycine Encephalopathy).- 24 Disorders of Amino Acid Synthesis: Glutamine, Serine and Asparagine.- 25 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
Section V Vitamin-Responsive Disorders
26 Biotin-responsive Disorders.- 27 Disorders of Cobalamin and Folate Transport and Metabolism.- 28 Disorders of Thiamine and Pyridoxine Transport and MetabolismSection VI Neurotransmitter and Small Peptide Disorders
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29 Disorders of Neurotransmission.- 30 Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione
Section VII Disorders of Lipid and Bile Acid Metabolism
31 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 32 Disorders of Cholesterol Synthesis.- 33 Disorders of Bile Acid Synthesis.- 34 Disorders of Phospholipid and Triglyceride Metabolism
Section VIII Disorders of Nucleic and Heme Metabolism
35 Disorders of Purine and Pyrimidine Metabolism.- 36 Disorders of Haem Biosynthesis
Section IX Disorders of Metal Transport
37 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
38 Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses.- 39 Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 40 Disorders of Fatty Acid and Plasmalogen Metabolism Including Peroxisomal Disorders.- 41 Congenital Disorders of Glycosylation and Dolichol and GPI Metabolism.- 42 Cystinosis
Section XI Appendices
43 Medications Used in the Treatment of Inborn Errors
29 Disorders of Neurotransmission.- 30 Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione
Section VII Disorders of Lipid and Bile Acid Metabolism
31 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 32 Disorders of Cholesterol Synthesis.- 33 Disorders of Bile Acid Synthesis.- 34 Disorders of Phospholipid and Triglyceride Metabolism
Section VIII Disorders of Nucleic and Heme Metabolism
35 Disorders of Purine and Pyrimidine Metabolism.- 36 Disorders of Haem Biosynthesis
Section IX Disorders of Metal Transport
37 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
38 Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses.- 39 Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 40 Disorders of Fatty Acid and Plasmalogen Metabolism Including Peroxisomal Disorders.- 41 Congenital Disorders of Glycosylation and Dolichol and GPI Metabolism.- 42 Cystinosis
Section XI Appendices
43 Medications Used in the Treatment of Inborn Errors
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Autoren-Porträt
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.
Bibliographische Angaben
- 2016, 6. Aufl., XXXI, 658 Seiten, Masse: 21,5 x 28,5 cm, Gebunden, Englisch
- Herausgegeben: Jean-Marie Saudubray, Matthias R. Baumgartner, John H. Walter
- Verlag: Springer, Berlin
- ISBN-10: 3662497697
- ISBN-13: 9783662497692
- Erscheinungsdatum: 28.10.2016
Sprache:
Englisch
Pressezitat
"Inborn Metabolic Diseases: Diagnosis and Treatment remains one of the standard textbooks for professionals working in inborn metabolic medicine and biochemical genetics. ... Inborn Metabolic Diseases: Diagnosis and Treatment gives an excellent and most up to date overview and deep insight on a rapidly evolving specialty with a steadily growing number of patients, most of them now growing-up and reaching adulthood, and is, therefore, informative for experts as well as for those who seek to become one." (Ulrike Mütze, Journal of Inherited Metabolic Disease, Vol. 40, 2017)Kommentar zu "Inborn Metabolic Diseases"
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