This user-friendly clinical handbook provides an overview of how to go about recognizing and diagnosing inherited metabolic diseases.
Reviewer:Michael Raff, MD(University of Washington School of Medicine)
Description:This new edition of Dr. Clarke's well-regarded 1996 book successfully maintains the practical, lucid style that characterizes its predecessor. It continues more than ever to render metabolic disorders accessible by distilling relevant information into a manageable small volume.
Purpose:This book is intended for all clinicians who care for individuals who have, or may have, inherited metabolic disorders.
Audience:Its symptoms-oriented organization ensures that residents in pediatrics, family medicine, and genetics will find it worth their spare time. It is equally valuable for the busy practitioner with a challenging patient. A few minutes with the relevant chapter should allow a quick formulation of the differential diagnosis and investigative plan. It also succeeds in being sufficiently interesting and readable that physicians in all stages of their careers will find it worthy of quiet review after hours. Whether as a component of studying for board examinations or simply to increase one's comfort in this potentially intimidating area, Dr. Clarke's expertise and eloquence should be welcomed.
Features:The 10 chapters of this approximately 250-page book are logically divided. After an introductory chapter, chapters two through seven are for the most part organized by initial clinical symptomatology. The exceptions to this are chapters three and seven which address, respectively, metabolic acidosis (which some might consider a "symptom" in the context of metabolic disease) and the newborn with acute metabolic illness (the most dramatic type of clinical presentation in this field). These chapters are easy to read, are thorough yet concise, and are highly recommended to every trainee and practitioner of pediatrics and medical genetics. The remaining three chapters deal with the clinical laboratory and therapeutic interventions. These chapters are equally enjoyable, though slightly less practical for on-the-job reference.
Assessment:This book has been appropriately revised and updated since its first edition. The symptoms-oriented chapters have more clinical, radiological, and laboratory illustrations. The laboratory and treatment chapters have been completely updated to reflect new technologies and increased knowledge. This book is unsurpassed for a straightforward comprehensible review on the approach to the patient with a metabolic disorder. For a concise outline of laboratory investigations and interpretation of results, another book of value is Inherited Metabolic Diseases by Hoffmann et al. (Lippincott Williams & Wilkins, 2002) -- which is the other useful handbook in the field of metabolic disorders. The Hoffmann book is more detailed in content but less flowing in style. In sum, Clarke's book is of great value to the clinician and should be required reading in pediatric and medical genetics training programs.