Description: This is an encyclopedic reference on the genetic basis, biochemical pathophysiology, pathology, diagnosis, and treatment of inherited disorders. This is the seventh edition of a classic; it appropriately replaces the 1989 edition.
Purpose: As in previous editions, the focus is largely on inherited metabolic disorders. However, with the change of title from Metabolic Basis... to Metabolic and Molecular Bases... comes the addition of many other inherited disorders that are not considered "metabolic" (e.g., cancer, disease predisposition). The work approaches a textbook of molecular medicine as we understand it in 1995, a goal the editors explicitly embrace.
Audience: This is a reference an encyclopedia that is as essential to a medical library as a medical dictionary or a textbook of internal medicine or pediatrics. It will be frequently read by clinical geneticists and will also be consulted by medical, graduate, and postdoctoral students interested in metabolism and the molecular basis of disease and disease predisposition. The editors and contributors (who now number more than 300) are widely recognized authorities in their fields.
Features: The three volumes (more than 4,600 pages) contain 154 chapters, 32 of which premier in this edition. The index alone is 93 pages long. New to this edition are discussions of mutational mechanisms, pharmacogenetics. and a thoughtful and comprehensive set of algorithms for the diagnosis of inborn errors of metabolism. There are new chapters on cancer and X-chromosome inactivation, and many very significant rewrites and revisions of chapters that appeared in previous editions. Tables containing recent gene mapping information and summaries of the covered diseases are present, of course.
Assessment: This monumental work easily lives up to the reputation of previous editions. By expanding the traditional theme of metabolic disorders to include many other inherited disorders and inherited predispositions to disease, it successfully addresses the needs of a broader audience. The section on "General Themes" provides very valuable introductions to relatively new concepts (e.g., imprinting, biogenesis of membranes and organelles). Many clinicians who have been daunted by previous editions will be won over by the diagnostic algorithms.