The Patient. Biological, Psychological, and Social Dimensions of Medical Practice

This book is a compilation of an international symposium held in South Carolina in March 1979. It reviews the progress made during the past two decades concerning attempts at therapy of the genetic disorders which result in abnormal lysosomal enzyme metabolism. Despite the narrowness of the subject the variety of information is quite large. The first section is devoted to a discussion of enzyme availability, purification, and characterization. It deals mostly with the recent biochemical knowledge of the structure and function of lysosomal enzymes. Section II discusses enzyme recognition and modification. This includes a discussion of the mechanism of uptake of lysosomal enzyme into lysosomes by Dr. Neufeld and a discussion of the signal hypothesis involving carbohydrate residues. Possibilities for modifying enzymes which are structurally abnormal or to alter their recognition by certain cells are discussed. Section III, devoted to animal model studies and methods of enzyme delivery to body organs, is a very helpful compilation of known animal models for the inherited lysosomal storage diseases. In Section IV the problems, mechanisms, and therapeutic trials involving enzyme manipulation in lysosomal storage diseases are discussed. Cofactor enzyme interactions, particularly with regard to vitamin B6 and other specific vitamin therapies, are discussed. In Section V there is a one-hundred-page compilation of the data of human trials of direct enzyme replacement for lysosomal storage diseases. Gaucher disease and Fabry disease form the group in which the greatest information is known and most therapeutic trials have been attempted. In Section VI cell and organ transplantation as therapeutic approaches are discussed. In this section fibroblast transplantation as well as organ transplantation are reported. These therapies are investigational at the present time, but in this volume there is a summary of information to date. This volume will be of value to geneticists and physicians caring for children and adults with these lysosomal storage diseases and is a very thorough, helpful, overall summary of the work in this field to date. As Dr. Desnick is one of the leaders in this particular aspect of genetic therapy, his overview at the beginning of the book is helpful for workers not thoroughly familiar with this field. This book belongs in the library, in human genetics departments, and in sections of genetics. It will not be helpful to general medical practitioners or to students or house officers.