| Description |
1 online resource (xviii, 415 pages) : illustrations |
| Contents |
Part One: Initial Approaches. Emergency management of metabolic diseases / Georg F. Hoffmann, Joe T.R. Clarke, James V. Leonard ; The role of communication in the treatment of inborn metabolic diseases / Peter Burgard, UdoWendel -- Part Two: Approach to Treatment. Disorders of phenylalanine and tetrahydrobiopterin metabolism / Nenad Blau, Peter Burgard ; Disorders of neurotransmission / Georg F. Hoffmann, Robert Surtees ; Disorders of GABA, glycine, serine, and proline / Jaak Jaeken, Tom J. de Koning ; Disorders of tyrosine degradation / Elisabeth Holme ; Disorders of histidine metabolism / Nenad Blau ; Disorders of leucine metabolism / Rebecca S. Wappner, K. Michael Gibson ; Disorders of valine-isoleucine metabolism / Bruce A. Barshop ; Various organic acidurias / Alberto Burlina, JohnWalter ; Disorders of the y-glutamyl cycle / Ellinor Ristoff, Agne Larsson ; Disorders of sulfur amino acid metabolism / Bridget Wilcken ; Inherited hyperammonaemias / James V. Leonard ; Disorders of ornithine, lysine, and tryptophan / Georg F. Hoffmann, Andreas Schulze ; Defective transcellular transport of amino acids / Susanne Schweitzer-Krantz ; Disorders of mitochondrial fatty acid oxidation and ketone body metabolism / Hélène Ogier de Baulny, Andrea Superti-Furga ; Disorders of carbohydrate and glycogen metabolism / Jan Peter Rake, Gepke Visser, G. Peter A. Smit ; Disorders of glucose transport / René Santer, Jörg Klepper ; Disorders of glycerol metabolism / Katrina M. Dipple, Edward R.B. McCabe ; The mucopolysaccharidoses / J. Edward Wraith, Joe T.R. Clarke ; Oligosaccharidoses and related disorders / Generoso Andria, Giancarlo Parenti ; Congenital disorders of glycosylation / Jaak Jaeken ; Cystinosis / Erik Harms ; Other storage disorders / Joe T.R. Clarke ; Inborn errors of purine and pyrimidine metabolism / Albert H. van Gennip, Jörgen Bierau, William L. Nyhan ; Disorders of creatine metabolism / Sylvia Stöckler-Ipsiroglu, Roberta Battini, Ton DeGrauw, Andreas Schulze ; Peroxisomal disorders / Hanna Mandel ; Hyperoxaluria / Bernd Hoppe, Ernst Leumann ; Mitochondrial energy metabolism / Carolien Boelen, Jan Smeitink ; Genetic dyslipoproteinemias / Serena Tonstad, Brian McCrindle ; Disorders of steroid synthesis and metabolism / Anna Biason-Lauber ; Inborn errors of cholesterol biosynthesis / Dorothea Haas, Richard I. Kelley ; The porphyrias / Elisabeth Minder, Xiaoye Schneider-Yin ; Disorders of bile acid synthesis / Peter T. Clayton ; Disorders of copper, zinc, and iron metabolism / Eve A. Roberts ; Leukotrienes / Ertan Mayatepek ; Hyperinsulinism of infancy / Khalid Hussain ; Other metabolic disorders / Georg F. Hoffmann, Nenad Blau |
| Summary |
The greatest dif?culty in life is to make knowledge effective, to convert it into practical wisdom. Sir William Osler. The inborn errors of metabolism, as a group of metabolic diseases, are re- tively rare and are sometimes called "Orphan diseases." As a group, they account for about 1 in 2,500 births (Applegarth et al. 2000) and, as a cumulative group reaching 20 years of age, their prevalence is about 40 cases per 100,000 popu- tion. In terms of patient days of continuous supervision and care, hundreds of thousands of such days are involved per generation of these patients. Although experience with these diseases as a class may be small and people expert in their management may be relatively few, in the years to come many caregivers will become involved. This book offers help to them. Until the mid-twentieth century, hereditary metabolic and other genetic diseases were considered to be purely "genetic" problems. Destiny would take its course, treatment did not exist, and genetic counseling about recurrence risks was virtually all that could be offered. Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU. Other genetic diseases for which an environmental experience was an essential component of cause (e. g., exposure to a dietary component or a drug) were then seen to yield to treatment |
| Analysis |
geneeskunde |
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medicine |
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volksgezondheid |
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public health |
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stofwisselingsstoornissen |
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metabolic disorders |
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pathologie |
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pathology |
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pediatrie |
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paediatrics |
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humane genetica |
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human genetics |
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Medicine (General) |
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Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references and indexes |
| Notes |
Print version record |
| In |
Springer e-books |
| Subject |
Metabolism -- Disorders -- Treatment
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Medical laboratory technology.
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Pathology.
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Metabolic Diseases -- therapy
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Metabolism, Inborn Errors -- therapy
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Laboratory Techniques and Procedures
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Clinical Laboratory Techniques
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Pathology
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pathology.
|
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Medical laboratory technology
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Metabolism -- Disorders -- Treatment
|
| Form |
Electronic book
|
| Author |
Blau, N. (Nenad), 1946-
|
| LC no. |
2004110452 |
| ISBN |
9783540289623 |
|
3540289623 |
|
354022954X |
|
9783540229544 |
|
6610459770 |
|
9786610459773 |
|
