Book review: Inborn metabolic diseases. Diagnosis and treatment (5th edition)

Book review: Inborn metabolic diseases. Diagnosis and treatment (5th edition)

Molecular Genetics and Metabolism 107 (2012) 1–2 Contents lists available at SciVerse ScienceDirect Molecular Genetics and Metabolism journal homepa...

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Molecular Genetics and Metabolism 107 (2012) 1–2

Contents lists available at SciVerse ScienceDirect

Molecular Genetics and Metabolism journal homepage:


Book review: Inborn metabolic diseases. Diagnosis and treatment (5th edition) Jerry Vockley ⁎ Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh School of Medicine, 130 DeSota Street, Pittsburgh, PA 15261, USA

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Article history: Received 1 June 2012 Received in revised form 5 June 2012 Accepted 5 June 2012 Available online 15 June 2012

a b s t r a c t The text “Inborn Metabolic Diseases (5th edition)”, edited by Saudubray, Van den Bergh, and Walter is one of several survey volumes available to metabolic physicians. The latest edition has numerous incremental and several major improvements including a greater focus on inborn errors of metabolism in adults. Overall, the text remains a must for trainees and experienced practitioners alike. © 2012 Elsevier Inc. All rights reserved.

Keywords: Inborn errors of metabolism Text book Diagnostic algorithms Book review

Textbooks on inborn errors of metabolisms are a bit like dogs. They come in all sizes and shapes, from the compact handbook Metabolicum Vademecum (Third edition, J Zschocke, and G Hoffman, editors) to the no longer published tome that has morphed to become the internetonly based Online Molecular and Metabolic Basis of Inherited Disease (OMMBID). Each book also has its unique approach in presenting the nearly overwhelming amount of information available, with variations including a focus on a specific organ system (the nervous system; A Clinical Guide to Inherited Metabolic Diseases, JTR Clark, second edition, Cambridge University Press), emphasis on summary tables and charts (Physician's Guide to the Diagnosis, Treatment, and Follow-up of Metabolic Diseases, third edition, N Blau, M Duran, KM Gibson, and C DionisiVici, editors,), and an encyclopedic coverage of (nearly) all available knowledge (OMMBID). In this milieu, the text Inborn Metabolic Diseases (5th edition), edited by J-M Saudubray, G Van den Bergh, and JH Walter, has long been my “go to” resource, a hybrid creature with complete but succinct reviews of covered topics accompanied by clear tables and algorithms summarizing differential diagnosis and figures demonstrating the pertinent biochemical pathways. Recently released in its fifth edition, the text marks a transition from long time editor Fernandez as lead editor to leadership of the editorial team by J-M. Saudubray. The text also bows to the inevitable pressure of growth in the field with the addition of two new chapters, and more physical heft (Table 1). The first two chapters of the text are its signature feature, presenting multiple tables and algorithms designed to guide the reader

⁎ Corresponding author. Fax: + 1 412 692 7816. E-mail address: [email protected]. 1096-7192/$ – see front matter © 2012 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2012.06.002

through the diagnosis of a patients based on clinical signs and symptoms. They are clearly the culmination of extensive experience and distillation by the editors and represent the essence of metabolic medicine. These chapters aren't as much meant to be read in sequence as used as a road map to diagnosis and treatment. Starting with an organ system and a symptom or biochemical abnormality, the algorithms guide one in very few steps to a limited number of possible diagnoses. They will serve as a useful learning tool for trainees and a handy reference for grizzled veterans needing a rapid resource for patients with essentially any clinical presentation. Remaining chapters in the text have a surprisingly consistent look and feel given the multi-author format (82 total contributors). It is obvious that the editors have spent a great deal of time and effort in minimizing the idiosyncrasies of the individual authors, providing for rather smooth reading and browsing. Each chapter provides a basic overview of not only the clinical aspects of each group of diseases, but also a basic introduction into laboratory diagnosis. As overview chapter on diagnostic testing and procedures (Chapter 4) provides an invaluable summary of typical laboratory values and findings in metabolic disease, and serves as a reservoir of information and references on classical in vivo clinical testing that has fallen out of vogue in recent years, but that still has a specialized role in metabolic medicine. Review of current therapies by necessity reflects the background of the chapter authors but provides a broad enough overview as to be relatively unbiased. Appendix A is a concise list of medications and supplements frequently used in metabolic medicine. Of particular note is a growing emphasis in the text on manifestations of inborn errors of metabolism in adults. Chapter 2 (Inborn errors of metabolism in adults: a diagnostic approach to neurological and psychiatric presentations) is one of two new ones in the book,


J. Vockley / Molecular Genetics and Metabolism 107 (2012) 1–2

Table 1 Physical Attributes.

Pages Figures Tables Sections Chapters Thickness Weight

4th edition

5th edition

561 65 63 10 43 2.7 cm 1323 g

656 87 10 43 4.1 cm 1554 g

and brings the type of synthesis of information to this topic that has long characterized the attention paid to pediatric topics in Chapter 1. The other new chapter in the book also focuses on conditions largely recognized in adults, disorders of phospholipid and sphingolipid synthesis (Chapter 35). As additionally evidenced by the congenital disorders of glycosylation (Chapter 42), we see a continued expansion in the emphasis on inborn errors of macromolecule metabolism. The conditions reviewed in these chapters serve to highlight that the field of inborn errors of metabolism is still growing with much new information and likely many new disorders yet to be discovered. Material in two previous chapters (one a rather general overview chapter, and the other on oxalosis) been incorporated into other chapters in the book to keep the final chapter count to 43.

While the new edition of this text has much to like, there are still some disappointments. All tables are rather difficult to read with a shaded gray background that gives the pages a somewhat dirty appearance. Figures are also in gray format rather than color, making them visually unappealing, and in some cases, even difficult to follow. This should be rectified in the next edition. In an age of growing reliance on electronic medical records and incorporation of portable devices such as tablet computers into the daily routine of busy practitioners, a portable electronic version of this text would be particularly welcome. While the full edition is available online through the publisher's web site (Springer Link) and a mobile app, I was not able to access it electronically due to subscription limitations. However, a sample chapter available on is a purely static PDF rendering of the publication. Ideally, an ebook should be a fully interactive, hyperlinked version that would provide ready navigation of the text's own material and immediate access to additional web based information. In such a resource, animated pathways and links to metabolite databases to aid in laboratory assessments would help propel metabolic publishing to the next generation. The diagnostic algorithms would be particularly amenable to (and helpful as) adaptation to electronic format that would allow quick navigation through otherwise complex static diagrams. In summary, the new edition of “Inborn Errors of Metabolism” is a worthy successor to its previous versions and continues to achieve a nice balance between detail and utility. It will be a valuable addition to any bookshelf, providing enough new information to justify replacing earlier editions.