JTR Clarke
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Cambridge: Cambridge University Press; 2002. 188 pp. US$40 (paper) ISBN 0-521-89076-4
Rating: ****
Audience: Pediatricians, clinical geneticists, residents and others involved in the care of patients with inherited metabolic disorders
Content: An excellent book for physicians who find inherited metabolic disorders intimidating, this book is also an excellent source for those who already care for patients with these disorders and would like to solidify their understanding of basic principles. In general, books written on this area of medicine are descriptions of metabolic conditions, which implies that the patient already has a diagnosis. This book, however, teaches the reader how to proceed when an inherited metabolic disorder is suspected or needs to be ruled out. The information is presented in such a clear and simple fashion that few people would find this book difficult to read. In addition, each chapter and chapter subsection is brief enough to be read fairly quickly. I would suggest reading the introductory chapter and then reading the chapter or sections that are relevant to one's current practice or a particular case. For example, physicians who assess patients with developmental delay and want to determine which patients should undergo investigations to rule out a metabolic disorder should read the section on chronic encephalopathy in chapter 2.
Strengths: In this book, Clarke teaches a complex subject in a simple but complete manner. Biochemical pathways are often intimidating for clinicians, but Clarke has managed to provide figures that are easily understood and yet provide all the necessary information. His tables and algorithms are excellent references to use for differential diagnosis in clinical situations. The author has also organized his material nicely into relevant chapters and subsections that address the clinical problems faced by physicians in day-to-day practice.
Limitations: This book is intended to complement other textbooks that provide more in-depth descriptions of inherited metabolic disorders.
Alicia K.J. Chan Clinical Geneticist University of Alberta Hospital Edmonton, Alta.
Alicia K.J. Chan
Clinical Geneticist
University of Alberta Hospital
Edmonton, Alta.
This book is available through your local book retailer or through the publisher at books.cambridge.org/0521890764.htm
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Items reviewed are rated on a 4-star scale (4 = excellent)