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Doody's Review ServiceReviewer: Hans Christoph Andersson, MD (Tulane University School of Medicine)
Description: This clearly written update on a highly complex group of inherited metabolic disorders describes childhood-onset and adult-onset inherited conditions. The previous edition was published in 2006.
Purpose: The book addresses the clinical presentation and diagnostic approach to the broad array of inborn errors of metabolism. Introductory chapters offer approaches to metabolic disease diagnosis based on clinical presentations, and the ensuing chapters describe the groups of diseases in detail. This is a very useful approach for clinicians with an unusually presenting patient, but the book also provides comprehensive reviews by experts in the field for readers who have a focused interest in a specific category of metabolic disease.
Audience: As it describes conditions which are vexing for many specialists, the book is most useful for pediatric subspecialists (e.g., clinical geneticists, neurologists), although it covers adult-onset metabolic diseases as well. With universal newborn screening for at least 30 metabolic conditions, it also offers general pediatricians an excellent reference for the evaluation and emergent management of children who have abnormal newborn screens.
Features: The introductory chapters compare and contrast the clinical features and diagnostic evaluations of the metabolic diseases. The overview of these complex conditions offers an excellent set of diagnostic paradigms, often in tables or useful graphics, to guide readers. One chapter is devoted to emergent management of patients presenting with metabolic derangements. The subsequent sections describe individual groups of disorders (e.g., mitochondrial energy metabolism disorders, amino acid metabolism and transport disorders) with an emphasis on clinical presentation, diagnostic approach, and therapy. While the conditions it describes are biochemical in nature, the book is clinically oriented and highly practical while offering the basic metabolic background. This balance is excellent for practicing physicians. The book is rife with tables and figures. An appendix lists the vast majority of unusual medications used in treatment of metabolic diseases. While not a shortcoming, the book is written by a large group of mostly European specialists and some treatment approaches and terms reflect a European orientation.
Assessment: This is an outstanding book about the complex and mostly newly described field of clinical biochemical genetics. This fifth edition offers the most current overview of a rapidly evolving specialty which has relevance to all areas of medical practice. Clinicians and students without a strong background in genetics or biochemistry will feel confident in their diagnosis and therapy of patients with metabolic diseases based on the concise and complete descriptions offered here.