journal of Heredity 2003:94(2)
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`© 2003 The American Genetic Association
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`physiology of the derangement. Clarke does not attempt to
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`provide a laundry list of diagnoses assodated with a de-
`rangement; 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. Each 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
`essential references, selected so as not to overwhelm those
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`who desire a more in-depth investigation. The text has
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`a thorough, easy-to-use index as well as a comprehensive list
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`of Web sites
`for parents and for
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`investigation.
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`New to this edition is a 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
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`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
`diseases in more detail.
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`This book is compact, portable, and very reasonably
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`priced at 1540. Because it is arranged by clinical presentation
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`rather than specific disease, and contains a myriad of tables,
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`cartoons, 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. The text 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 Dysmorpholugy and Medical Genetics
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`Depamnent of Pediatrics
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`University of California—San Diego
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`San Diego, CA 92l03
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`IO. |093fjheredlesg048
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`DOI:
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`Book Reviews
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`A Clinical Guide to Inherited Metabolic Diseases,
`‘ 2nd ed.
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`J. T. R. Clarke.
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`Cambridge University Press, Cambridge, UK. 2002. 289 pp.
`$40.00.
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`In the second edition of this introductory text,]. 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
`expanding the discussion of
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`mirachondrial and genetic contributions to disease. Despite
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`the significant expansion of the field in the last six years, A
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`Chaim! Calida ta Inherited Metabolic Disease: retains its readily
`accessible format, making it suitable for reference in 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 of biochemistry 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
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`succeeds in this goal, distilling a very broad, complex, and
`ever—expanding field into a usable, well-written text that
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`contains extensive clinical examples and a multitude of
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`diagrams and tables to facilitate rapid reference. As was the
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`first edition, the sec0nd edition is a necessity for all trainees
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`and professionals who care forinfants and children, especially
`in inpatient settings.
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`An author writing a review is faced with a dilemma:
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`whether to write a “cookbook” with only algorithms and
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`tables that can be carried around—but that might miss the
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`opportunity to provide basic concepts and thereby enable
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`long-term understanding of mechanisms—or to previdc
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`a review of all knowledge in the field in encyclopedic form,
`risking 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 treatment guidelines, yet he provides enough theory and
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`explanation to provide a groundwork for understanding the
`mechanisms.
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`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
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`diagnosis and diagnostic dilemmas. The next six chapters
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`are arranged according to clinical preSentation, allowing for
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`rapid review of a topic. Each chapter is introduced with
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`a concise summary of the physiology of the normal and
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`disease states, and well-constructed cartoons and simplified
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`pathways further facilitate understanding of the underlying
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`9103‘g.Iaqotao110159113liqfile'sleumo[piogxoparaqiyzdnutum}papeolumog
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`Horizon Exhibit 2037
`
`Lupin v. Horizon
`IPR2017—01159
`
`3 §
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`TheJournalofHeredity
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`AmericanGeneticAssociation
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`Page 1 of 1
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`Horizon Exhibit 2037
`Lupin v. Horizon
`IPR2017-01159
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