Inborn Metabolic Diseases: Diagnosis and Treatment

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John Fernandes, Jean-Marie Saudubray, Georges van den Berghe
Springer Science & Business Media, Mar 14, 2013 - Medical - 443 pages
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Five years after its predecessor, the second edition of Inborn Metabolic Diseases: Diagnosis and Treatment is appearing in an almost completely revised form. Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. For that reason, clinical approach has not only remained the central theme of the first chapter, but also become the starting point for all chapters dealing with either a single specific disorder or a group of diseases. Particular attention has been paid to clinical presentation under acute, subacute or chronic forms, to the appearance of initially aspecific symptoms evolving into a more characteristic syn drome at a later age, or vice versa, to clinical heterogeneity and its relation to genetic and biochemical heterogeneity. Brief reference to other diagnostic possibilities is also given in all disease-related chapters. Description of the metabolic derangements is restricted to the main pathophysiological features which provide the rationale for diagnosis and treatment. Methods to ascertain the diagnosis and diagnostic tests are listed comprehensively. As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. The impressive progress of knowledge with respect to genetic lesions in inborn errors of metabolism remains condensed to the essentials. For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995).
 

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Contents

Clinical Approach to Inherited Metabolic Diseases
5
Acute Symptoms in the Neonatal Period 4 cumb in the newborn period without having
11
Clinical Approach to Inherited Metabolic Diseases
25
Chronic and Progressive General Symptoms 21 common accompaniment of metabolic
28
J FERNANDES and J M SAUDUBRAY
41
Emergency Treatments
47
Psychosocial Care of the Child and Family
56
Glycogen Storage Diseases
69
BranchedChain Organic Acidurias
207
Ketolysis Defects
222
BiotinResponsive Multiple Carboxylase Deficiency
239
Dyslipidemias
261
Disorders of Purine and Pyrimidine Metabolism
287
Disorders of Neurotransmitters
305
Wilson and Menkes Diseases
317
Genetic Defects Related to Metals Other Than Copper
325

Disorders of Galactose Metabolism
87
Disorders of Fructose Metabolism
94
N R M BUIST
101
The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle
108
The Respiratory Chain
121
Disorders of Fatty Acid Oxidation
132
Hyperphenylalaninaemias
145
E A KVITTINGEN P T CLAYTON and J V LEONARD
161
Homocystinuria Due to Cystathionine BSynthase Deficiency
177
Nonketotic Hyperglycinemia
191
BECK M D
329
Porphyrias
331
Inborn Errors of Bile Acid Synthesis
341
Alpha1Antitrypsin Deficiency
359
Sphingolipids
374
Mucopolysaccharides and Oligosaccharides
383
Peroxisomal Disorders
399
Liver Transplantation
417
Subject Index
439
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