Powerful pocket pediatric paperback: Inherited Metabolic Diseases

by Georg Hoffmann, William L. Nyhan, Johannes Zschocke, Stephen G. Kahler and Ertan Mayatepek. Lippincott Williams & Wilkins, 2002. US$29.95 (ix + 435 pages) ISBN 0 7817 2900 9View Large Image | Download PowerPoint SlideRepresentative of the dynamic evolution of the subject matter, Inherited Metabolic Diseases offers a systematized and thorough presentation of the current understanding of pediatric metabolic disease, from the genetic underpinnings to the subtle symptoms that drive clinical inquisition.The book is organized with the same practical goals as a course syllabus, beginning with an overview of the general classification of metabolic disorders. Additionally, there is excellent use of integrated metabolic pathway figures throughout (to both refresh and clarify the reader's memory), although the clear intention is to focus on the patient. Other introductory information stresses the fundamentals of obtaining an accurate family history, the importance of cultivating a sense of smell (maple syrup urine disease and phenylketonuria, among others), in addition to some key caveats for when (and when not) to suspect metabolic disease. This emphasis on empowering the diagnostician is given further substance in Appendix A, which contains a differential list [adapted and extended from Nyhan and Ozand (1998) Atlas of Metabolic Diseases, Arnold] based on suggestive signs and symptoms.Pediatric patients are well known to present diagnostic challenges not always relevant in the adult population; however, many similarities in clinical approach exist between the two populations. For example, emergency situations have long lent themselves to the rapid'if/then' tactics afforded through the use of diagnostic algorithms. The book offers a concise section covering metabolic emergencies, embellished with the detailed algorithmic'work-up' (an example of some of the unfortunate jargon that appears here and there throughout the book) to several states of acute metabolic disruption. Methods of pharmacological and extracorporeal detoxification are discussed, with the goals of short- and long-term patient management again culminating each topic.The helpful aspects of this book extend into detailed explanations of laboratory testing, rationale and procedure. Important cautions concerning test interpretations and laboratory adequacy (a timely topic for consideration given some of the recent problems with hCG testing) are also noted. The interpretation of tests is extensively covered, with aspects of neonatal screening, biopsy, functional testing and radiological findings discussed and illustrated in tabular form. Notable among these are the descriptions of DNA. This particular chapter highlights several strengths of this book: the focus on recent literature; and directions for using the internet to obtain updated information (e.g. Online Mendelian Inheritance in Man, Expasy and Swissprot; all further developed in Appendices B and D).The authors have devoted a great deal of effort to organizing the clues to metabolic disease by organ system, and the importance of recognizing these characteristics, and subsequently proceeding with the appropriate investigation is clearly stated. Information about the likelihood of a particular sign or symptom occurring singly, or in combination, is also included. Advice in this section extends from the bedside to the laboratory. Indeed, mention is made of findings that might be confusing to technicians (such as the multiple proline peaks in prolidase deficiency), but should not necessarily be construed as lab error. Appendix A distils this section with one of the other stalwarts of clinical training, the differential diagnosis list.As a final example to illustrate how far beyond the typical biochemistry text this book has gone, the last few chapters are devoted to several additional insights into biosynthesis and breakdown defects. Many of these'pearls', such as discussion of patient presentations that differ from the classic picture, are obviously the result of a well developed, and painstakingly earned, clinical acumen. As such, this final section truly reveals the authors’ expertise, and adds a welcome touch of mentoring to the charts, lists and descriptions.Clinical handbooks encompass unadorned pamphlets to more exhaustive encyclopedic manuals, of which Inherited Metabolic Diseases is a good example. However, it is enriched by many of the things that temper medical science, such as a solid patient-centered ethic, and a broad range of practical clinical wisdom. Additionally, it has many of the features that often make less weighty pocket references desirable (e.g. rapid system- and symptom-based assessment, and treatment algorithms). Therefore, it deserves strong consideration for space in the lab coat, book bag or briefcase.