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Book, Software, and Web Site Reviews |
Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong SAR
Although many textbooks are available on inherited metabolic diseases, they are usually big in size and unapproachable. Dr. Clarke has done an amazing task in providing this handy guide of approximately 300 pages on how to diagnose inherited metabolic diseases. Just as tourists need a travel guide when visiting new places, pediatricians and laboratorians will use this clinical guide, which shows them the way to arrive at a diagnosis.
This book begins with a chapter on general principles of genetics, which serves as a quick review of basic medical sciences for clinicians. The next six chapters describe six groups of major presenting symptoms in inherited metabolic diseases—neurologic, acidosis, hepatic, cardiac, storage, and acute metabolic—in newborns. In each of these chapters, more detailed subdivisions of the presentation types are listed at the beginning of the chapter. For example, in the chapter on neurologic presentation, symptoms are divided intoencephalopathy of chronic and acute types, stroke, movement disorder, myopathy, and psychiatric presentations. Readers can quickly flip to the clinical symptomatology of interest for a comprehensive list of differential diagnoses. Furthermore, algorithms, which are more useful than unannotated lists of differential diagnoses, are shown as path diagrams and tables to highlight key investigation paths. This helps clinicians to arrive at a definitive diagnosis or to narrow the focus to a few differential diagnoses. Many diagnostic features allow inherited metabolic disease diagnosis to be made on the spot. These features are illustrated with pictures of histopathology and imaging. Other distinguishing features are shown in table format.
The author deserves high praises for sharing with readers his many years of clinical experience. More importantly, he simplifies a complicated topic into a systematic and approachable guide so that a fresh clinician can quickly determine a diagnosis or pursue appropriate investigations. Comprehensive information is presented in simple diagrams and tables; you will find a diagram or a table on almost every other page.
The next two chapters cover laboratory issues: newborn screening and laboratory investigations. The book covers almost all of the tests performed for inherited metabolic diseases, from plasma ammonia to molecular genetic studies, with concise descriptions, making it a handy guide for clinicians. State-of-the-art techniques, such as cybrid analysis of electron transport chain defects in the differentiation of nuclear encoded or mitochondrial encoded defects, are also included in this thin book. The last chapter is very important because it provides a comprehensive review of the treatments of inherited metabolic diseases. Again, general principles are well illustrated with specific examples. Here you will find the rationale of regimens for the full range of inherited metabolic diseases.
A Clinical Guide is indispensable for clinicians and laboratorians working in this field. Given its concise nature, you will not find details such as prescription dosages for all diseases. Instead, this book performs a far more important function by helping readers to arrive at a diagnosis from patients’ symptoms. Once a diagnosis is made, readers may go to reference textbooks or internet web-sites to look up the latest information about the disease. The author also foresees this need and has included a list of internet websites related to inherited metabolic disorders in the appendix. I strongly recommend this useful book for clinical and laboratory personnel working in the field of inherited metabolic diseases.
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