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This book is designed as a source of practical information of use in the diagnosis and management of patients with inherited diseases of metabolism. We have kept the focus, as did Garrod, on the inborn errors. This permits a unity of theme. At the same time, the reality is that genetically determined human variation in metabolism leads to an enormous variety of clinical expression crossing most of the boundaries of clinical subspecialty.

We want this book to be helpful to physicians at the bedside, in the intensive care unit, and in the clinics and offices, as well as to biochemical geneticists and clinical chemists involved in laboratory diagnosis. The atlas format has permitted us to include very many illustrations of patients. Metabolic pathways have been shown with a reductionist or high-power view of just that area most relevant to each disease. In addition, the chapters deal with individual diseases. There are introductory chapters to the organic acidemias, the disorders of the urea cycle, the disorders of fatty acid oxidation, the lactic acidemias, the glycogenoses, and the mucopolysaccharidoses, which provide some general considerations of these areas of metabolism and permit us to avoid some redundancy. With these exceptions, each chapter represents defective activity of a single enzyme. Mutations in a single gene can lead to a very large family of different variant enzymes and, accordingly, very different clinical phenotypes. In general, we have considered this variation in each chapter, with emphasis on the most common expression. In two instances, we have given variants separate treatments. There is historical precedent for separate consideration of Hurler disease from the Scheie and Hurler-Scheie variants and for the separate consideration of mucolipidoses II and III. We have continued that. In contrast, we now have an integrated chapter for HPRT deficiency.