The Metabolic Basis of Inherited Diseases

TLDR

The book is presented as a valuable addition to essential medical reference collections, alongside classics such as Christopher's Surgery and Goodman and Gilman's Pharmacology. Its structure begins with an introductory molecular genetics section and then offers chapters that blend case histories, clinical data, metabolic pathways, genetic variations, and literature reviews. The fully rewritten edition delivers clear, concise coverage, with particularly strong chapters on albinism and porphyria. Examples of its content include chapters on mucopolysaccharidoses, lipoprotein and lipid disease, and Refsum's syndrome.

Abstract

Some books belong in every medical library. Volumes such as Christopher's<i>Surgery</i>; Allen, Barker, and Hines'<i>Peripheral Vascular Disease</i>; and Goodman and Gilman's<i>Pharmacology</i>are examples. The current book under review is another to add. This edition has been completely rewritten by knowledgeable authors who write clearly and in concise detail about each subject. The historical description of cases is included. The pertinent clinical information is summarized, the metabolic and biochemical pathways are illustrated, genetic variations are discussed, and the literature summarized so that each chapter is a delight to read. The volume begins with an introduction to molecular genetics and proceeds to establish the utility of the approach to clinical medicine. The chapters on albinism by Fitzpatrick and Quevedo and on porphyria by Rudi Schmid are good. The Dorfman chapter on mucopolysaccharidoses, the Fredrickson chapters on lipoprotein and lipid disease, and the chapter on Refsum's syndrome are examples of