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`© 2003 The American Genetic Association
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`Book Reviews
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`A Clinical Guide to Inherited Metabolic Diseases,
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`J. T. R.Clarke.
`Cambridge University Press, Cambridge, UK. 2002. 289 pp.
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`$40.00.
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`In the secondedition ofthis introductory text,J. T. R. Clarke
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`again masterfully succeeds in summarizing inherited meta-
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`bolic diseases for the non-metabolic specialist. The new
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`edition updates the latest research as well as diagnostic and
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`therapeutic tools, while
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`mitochondrial and genetic contributions to disease. Despite
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`the significant expansion of thefield in the last six years, A
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`Clinical Guide to Inherited Metabolite Diseases retains its readily
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`accessible format, makingit suitable for referencein a clinical
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`setting or as a review text.
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`This book consists of 10 concise chapters and 288 pages,
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`only minimally longer than the first edition. Undoubtedly, for
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`most clinicians and trainees,
`the patient with a potential
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`inborn error of metabolism remains quite intimidating,
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`a situation not helped by flashbacks to the all-too-quickly-
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`forgotten principles ofbiochemistry and physiology. The goal
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`of the book is to calm those fears by introducing basic
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`concepts within a clinically oriented framework, Clarke
`succeeds in this goal, distilling a very broad, complex, and
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`ever-expanding field into a usable, well-written text that
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`contains extensive clinical examples and a multitude of
`diagrams andtables to facilitate rapid reference. As was the
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`first edition, the second edition is a necessity forall trainees
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`and professionals whocare for infants andchildren,especially
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`in inpatientsettings.
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`An author writing a review is faced with a dilemma:
`whether to write a “cookbook” with only algorithms and
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`tables that can be carried around—butthat might miss the
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`Opportunity to provide basic concepts and thereby enable
`long-term understanding of mechanisms—or to provide
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`a reviewof all knowledge in the field in encyclopedic form,
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`tisking that the text will remain on the shelf, unavailable to
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`the clinician. Clarke is able to address this dilemma and
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`balance the short-term need for readily available diagnostic
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`and treatmentguidelines, yet he provides enough theory and
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`explanation to provide a groundwork for understanding the
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`mechanisms.
`The second edition begins with an excellent review of
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`basic principles, covering metabolism, genetics {including
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`mitochondrial
`inheritance), and a brief introduction to
`diagnosis and diagnostic dilemmas. The next six chapters
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`ate arranged according to clinical presentation, allowing for
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`rapid review of a topic. Hach chapter is introduced with
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`a concise summary of the physiology of the normal and
`disease states, and well-constructed cartoons and simplified
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`pathways further facilitate understanding of the underlying
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`physiology of the derangement. Clarke does not attempt to
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`provide a laundry list of diagnoses associated with a de-
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`tangement; rather, he presents and discusses several detailed
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`examples of specific diseases, utilizing extensive clinical
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`information provided in tables, charts,
`illustrations, and
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`photographs. Hach chapter closes with a discussion of
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`diagnosis and treatment options. Throughout
`the book,
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`chapters have multiple subtitles,
`further enabling rapid
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`reference, and are followed by a brief bibliography of
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`essential references, selected so as not to overwhelm those
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`who desire a mote in-depth investigation. The text has
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`a thorough, easy-to-use index as well as a comprehensivelist
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`of Web sites
`for parents and for
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`investigation.
`New to this edition is 2 chapter on newborn screening,
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`which includes a discussion of tandem mass spectrometry,
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`a very timely topic for those who care for neonates and
`children or for those who formulate public policy. The final
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`two chapters of the text address diagnosis and treatment in
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`greater detail, again covering the treatment of specific
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`diseases in more detail.
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`This book is compact, portable, and very reasonably
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`priced at $40. Becauseit is arranged by clinical presentation
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`rather than specific disease, and contains a myriad of tables,
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`cattoons, photographs, and charts, it successfully balances
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`the clinical need for expediency and the long-term desire
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`for understanding concepts. Thetext is an excellent value
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`and would be most useful to all pediatric and genetic resi
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`dency libraries, as well as to any student or professional
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`interested in the diagnosis and care of patients with
`metabolic diseases.
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`KeitH K, Vaux
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`Fellow in Dysmorphology and Medical Genetics
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`Department of Pediatrics
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`University of California-San Diego
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`San Diego, CA 92103
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`DOI: 10. 1093/hered/esg048
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