Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

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Nenad Blau, Georg F. Hoffmann, J.V. Leonard, Joe T. R. Clarke
Springer Science & Business Media, 5 de set. 2005 - 416 pàgines
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.
 

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Continguts

Emergency Management of Metabolic Diseases
3
The Role of Communication in the Treatment of Inborn Metabolic Diseases
15
Approach to Treatment
23
Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
25
Disorders of Neurotransmission
35
Disorders of GABA Glycine Serine and Proline
43
Disorders of Tyrosine Degradation
49
Disorders of Histidine Metabolism
57
Oligosaccharidoses and Related Disorders
205
Congenital Disorders of Glycosylation
217
Cystinosis
221
Other Storage Disorders
231
Inborn Errors of Purine and Pyrimidine Metabolism
245
Disorders of Creatine Metabolism
255
Peroxisomal Disorders
267
Hyperoxaluria
279

Disorders of Leucine Metabolism
59
Disorders of Valinelsoleucine Metabolism
81
Various Organic Acidurias
93
Disorders of the yGlutamyl Cycle
99
Disorders of Sulfur Amino Acid Metabolism
105
Inherited Hyperammonaemias
117
Disorders of Ornithine Lysine and Tryptophan
129
Defective Transcellular Transport of Amino Acids
139
Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism
147
Disorders of Carbohydrate and Glycogen Metabolism
161
Disorders of Glucose Transport
181
Disorders of Glycerol Metabolism
189
The Mucopolysaccharidoses
195
Mitochondrial Energy Metabolism
287
Genetic Dyslipoproteinemias
301
Disorders of Steroid Synthesis and Metabolism
309
Inborn Errors of Cholesterol Biosynthesis
321
The Porphyrias
331
Disorders of Bile Acid Synthesis
341
Disorders of Copper Zinc and Iron Metabolism
353
Leukotrienes
365
Hyperinsulinism of Infancy
369
Other Metabolic Disorders
381
Indices
385
Disorders Index
387
General Index
411

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Pàgina 160 - Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100:2248-2253 4.
Pàgina 265 - J (1994) Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 36:409-413.

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