Hoffmann G, Zchocke J, Nyhan WL, eds. Inherited Metabolic Diseases. Springer 2010, 448 pages, 58 illustrations, $139.00.
Inherited metabolic diseases are generally viewed with anxiety by house staff and general pediatricians. Clinical cases are usually rare and the clinical presentation of cases can be both non specific and complex, which leads to further apprehension among clinicians. This text gives concise information on diagnosis and management of inherited metabolic diseases and provides for a clinically based approach to inherited metabolic diseases.
Inherited Metabolic Diseases: A Clinical Approach is written in a very reader friendly manner. It has been co-authored by more than 25 accomplished authors with expertise in the subject.
The book has been divided into 5 parts, beginning with an introduction part where the various types of inborn errors of metabolism are discussed. This leads to the next part, which discusses a systematic approach to these disorders. Included is an important short chapter on anesthesia and metabolic disease where certain important considerations/ interactions between certain anesthetic agents and specific metabolic disorders are discussed. The next part is divided into 12 sections and pertains to approaching a patient with suspected with metabolic disease based on the system involved with an emphasis on specific presenting signs, symptoms, and laboratory abnormalities. Following this is a comprehensive discussion on investigations for metabolic diseases which includes not only premortem but also post mortem tests. The book ends with an extensive list of differential diagnosis clinical and biochemical phenotypes of these disorders. An added feature of this book is the accompanying CD-ROM with the whole content of the book including interactive tables and links.
Each section makes use of tables, lists, and charts. The book is well illustrated. Plenty of accompanying tables are helpful summaries of complex information which aids in diagnostic and therapeutic decisions. The only caveat of the book is that treatment options are not as extensively elaborated upon as the diseases themselves, but as the authors point out; detailed coverage of diverse issues of the long term care and treatment of inherited metabolic diseases was not one of the objectives of this book. Treatment is discussed in detail in situations where it is practically relevant, particularly in the emergency situation during the acute presentation of a metabolic disease.
Overall, Inherited Metabolic Diseases is a concise textbook which can serve as a user-friendly guide to the diagnosis and initial management of patients with metabolic diseases. This valuable resource would be a useful tool for pediatricians, internists, neurologists, and clinical geneticists.
