Inborn Metabolic Diseases: Diagnosis and TreatmentJohn Fernandes, Jean-Marie Saudubray, Georges van den Berghe 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
| 5 | |
| 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 |
| 439 | |
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Common terms and phrases
abnormalities acidemia activity acute amino acid anemia assay ataxia atrophy autosomal recessive biochemical biopsy biotin biotinidase biotinidase deficiency blood brain carboxylase carnitine catabolism cause cells cholesterol chronic ciency Clinical Presentation concentrations cystinosis defi deficiency dehydrogenase Diagnostic Tests diet dietary doses enzyme defect excretion fatty acid oxidation fibroblasts folate fructose galactose gene therapy Genetics glucose glutaric glycine glycogen hepatic hepatomegaly heterozygotes homocystinuria hyperammonemia hypoglycemia hypotonia inborn errors increased infants Inherited Metab intake ketosis lactate lactic acidosis levels lipoproteins Metabolic Derangement metabolites methylmalonic mg/kg mitochondrial mmol/l MSUD muscle mutations neonatal neurological normal onset organic acidurias ornithine oxidase pathway patients PDHC Pediatr Res peroxisomal phenotype phenylalanine phenylketonuria plasma porphyria prenatal diagnosis protein pyruvate reductase renal Respiratory chain disorders retardation Saudubray serum severe storage disease symptoms syndrome synthase synthesis synthetase thiolase tion tissues Treatment and Prognosis tyrosinaemia tyrosine urea cycle urinary urine variants vitamin Wilson disease
Bibliographic information
| Title | Inborn Metabolic Diseases: Diagnosis and Treatment |
| Editors | John Fernandes, Jean-Marie Saudubray, Georges van den Berghe |
| Contributors | K. Tada, N.R.M. Buist |
| Edition | 2, illustrated |
| Publisher | Springer Science & Business Media, 2013 |
| ISBN | 3662031477, 9783662031476 |
| Length | 443 pages |
| Subjects | › Medical / Clinical Medicine Medical / Endocrinology & Metabolism Medical / Pediatrics |
| Export Citation | BiBTeX EndNote RefMan |