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.
Содержание
Emergency Management of Metabolic Diseases.- The Role of Communication in the Treatment of Inborn Metabolic Diseases.- Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism.- Disorders of Neurotransmission.- Disorders of GABA, Glycine, Serine, and Proline.- Disorders of Tyrosine Degradation.- Disorders of Histidine Metabolism.- Disorders of Leucine Metabolism.- Disorders of Valine-Isoleucine Metabolism.- Various Organic Acidurias.- Disorders of the ?-Glutamyl Cycle.- Disorders of Sulfur Amino Acid Metabolism.- Inherited Hyperammonaemias.- Disorders of Ornithine, Lysine, and Tryptophan.- Defective Transcellular Transport of Amino Acids.- Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism.- Disorders of Carbohydrate and Glycogen Metabolism.- Disorders of Glucose Transport.- Disorders of Glycerol Metabolism.- The Mucopolysaccharidoses.- Oligosaccharidoses and Related Disorders.- Congenital Disorders of Glycosylation.- Cystinosis.- Other Storage Disorders.- Inborn Errors of Purine and Pyrimidine Metabolism.- Disorders of Creatine Metabolism.- Peroxisomal Disorders.- Hyperoxaluria.- Mitochondrial Energy Metabolism.- Genetic Dyslipoproteinemias.- Disorders of Steroid Synthesis and Metabolism.- Inborn Errors of Cholesterol Biosynthesis.- The Porphyrias.- Disorders of Bile Acid Synthesis.- Disorders of Copper, Zinc, and Iron Metabolism.- Leukotrienes.- Hyperinsulinism of Infancy.- Other Metabolic Disorders.
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