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Inborn metabolic diseases: diagnosis and treatment. Georges van den Berghe, Jean-Marie Saudubray, John Fernandes, John H. Walter

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Inborn metabolic diseases: diagnosis and treatment Georges van den Berghe, Jean-Marie Saudubray, John Fernandes, John H. Walter ebook pdf
Publisher: Springer
Language: English
Page: 547
ISBN: 3540287833, 9783540287834

From The New England Journal of Medicine

Inborn Metabolic Diseases, edited by Fernandes et al., is a pleasure to read. This book, "written by clinicians for clinicians," is in its third edition and seems to have come of age. It is a cohesive and authoritative work covering the fast-growing field of inborn errors of metabolism. In their preface, the editors refer readers to the latest edition of Molecular and Metabolic Bases of Inherited Disease (C. Scriver et al., eds. New York: McGraw-Hill, 2000) for more detailed information. The latter book is the primary reference work in this field, but Inborn Metabolic Diseases is in many ways complementary. Clinicians working in the field, as well as those who see patients with inborn errors of metabolism less frequently, will find this book a wonderful companion. It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles.

Although the majority of the 61 authors are European, a substantial number are from North America. In this third edition, almost half the authors are new, and there are also new chapters. The useful first chapter, on the clinical approach to inherited metabolic diseases, includes a brief paragraph on adults who present with inborn errors of metabolism -- reminding us that this field is by no means confined to pediatrics. A new chapter on the present status and new trends in treatment provides the reader with a clear understanding of the principles involved. There are also new chapters on metabolic disorders involving leukotrienes, cholesterol synthesis, creatine, and proline and serine. There is a welcome section on congenital defects of glycosylation. (It is remarkable that this group of disorders, known as carbohydrate-deficient glycoprotein [CDG] disorders when first described in the 1980s, has managed to undergo a change in name with scarcely a ripple of discontent, and with no change in the abbreviation.)

A good feature of the book is its uniformity. Each chapter starts with a single page on the biochemical features of the disorder in question, sometimes with a little physiological information, and the relevant biochemical pathway. Most of the individual disorders are discussed under the same headings: clinical presentation, metabolic derangement, diagnostic tests, treatment and prognosis, and genetics. This homogeneity makes the book extremely easy to use.

Some chapters deal with groups of disorders. Although this is inevitable in some instances, in others, more detailed discussions of the individual disorders might have been preferable. This is true of the chapter on mucopolysaccharidoses and oligosaccharidoses, and perhaps also the chapters on defects of fatty-acid oxidation and the urea cycle. But these are quibbles.

The third edition has been updated, with most chapters containing numerous references from the latter half of the 1990s. This is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated.

The two-volume Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology, by Gilbert-Barness and Barness, is quite different from Inborn Metabolic Diseases and will probably appeal to a different readership. It covers a larger range of inborn errors, including, for example, endocrine disorders and calcium metabolism -- a mammoth task for the two authors. They state that their primary aim is "to present clinical phenomena we have observed, along with the underlying physiologic and pathologic changes," in the tradition of Osler. The two volumes contain numerous clinical and pathological photographs of excellent quality, as well as many tables and diagrams. The sections on pathology are particularly welcome, because they contain information that is difficult for clinicians dealing with metabolic disease to obtain. The book offers a wealth of clinical details and useful observations.

However, several problems detract from this work. It is uneven in both style and content. For example, five pages are devoted to Farber's disease, an extremely rare lysosomal-storage disorder, but only 11 lines to cystinuria, a common and important transport disorder leading to the formation of renal stones, often in children. Up to a point, such imbalances do not matter, but they may reduce the value of the book as a reference work.

More disturbing is the discovery that several sections have uncertain or outdated information. For example, the clinical and pathological manifestations of homocystinuria due to deficient formation of methylcobalamin (cobalamin C, D, E, F, and G disorders) are said to be similar to those of homocystinuria due to cystathionine synthase deficiency, the "classic" form of homocystinuria. However, this statement is certainly not in accord with the literature or with the experience of most physicians. The chapter on disorders of fatty-acid oxidation does not mention very-long-chain acyl-coenzyme A dehydrogenase deficiency, an important disorder in this group, but contains an extensive section on long-chain acyl-coenzyme A dehydrogenase deficiency, even though a deficiency of this distinct enzyme has not clearly been shown to be associated with any described disorders. The problem may be a recurrent typographical error. There are a number of such errors in the book.

Although the chapters have valuable lists of references, there are relatively few from the past five or six years. This omission is particularly problematic in some sections -- for example, the section on disorders of the mitochondrial respiratory chain, a fast-moving field.

Some of these shortcomings may reflect the time required to assemble such a large work, as well as the personal views and preferences of the two authors, who are giants in the field. The illustrations are a particularly strong feature of this book, which has clearly been a labor of love.

Bridget Wilcken, M.B., Ch.B. Copyright © 2001 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.
--This text refers to an alternate

edition.

Review

"[This title] is a pleasure to read...Written by clinicians for clinicians... It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles... this is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated." (NEW ENGLAND JOURNAL OF MEDICINE)

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