William L. Nyhan

W. L. Nyhan

Linda Frances Thompson

R. W. E. Watts

At the same time the study of purine metabolism has become an integral feature of immunology. The importance of purines in clinical oncology was first demonstrated with the synthesis by George Hitchings of 6-mercaptopurine. Its continuing impact on hematology and oncology is seen throughout these volumes, particularly in the effects of inhibition of adenosine deaminase on T cells and on T cell leukemia. This publication has implications for internal medicine, pediatrics, urology, biochemistry, immunology, genetics, hematology, and oncology. Modern molecular biology and techniques involving recombinant DNA were evident in papers on HPRT and on adenosine deaminase, as well as in studies on APRT and UMP synthase. The genes for HPRT, adenosine deaminase and puine nucleoside phosphorylase have been cloned. The background for ultimate approaches to gene therapy in man was provided in papers from Dr.

Part B: Basic Science Aspects

Purine and Pyrimidine Metabolism in Man V

The Fifth International Symposium on Human Purine and Pyrimidine Metabolism was held in San Diego, California (U.S.A.) in July and August of 1985. Previous meetings in this series were held in Tel Aviv (Israel), Baden (Austria), Madrid (Spain) and Maastricht (The Netherlands). The proceedings of each of these meetings were published by Plenum. The next meeting will be in Japan. This Symposium differed from those that went before in that it permitted us to honor Dr. J.E. Seegmiller, Professor of Medicine at the University of California San Diego, for his many contributions to our understanding of purine metabolism in man. This publication is dedicated as a Festschrift to Jay. Dr. Richard W.E. Watts delivered the keynote address outlining in scholarly fashion the history of Dr. Seegmiller's accomplishments in research on purine metabolism and the great number of currently active scientists in this field who have worked with him. This address is published as the first contribution to Volume I. Dr. Dewitt Stetten, Jr., was scheduled to be the speaker at our banquet. Unfortunately, he could not be with us. Dr. Seegmiller has written an appreciation of Dr. Stetten and his contributions to our field, and this has been published following Dr. Watts' paper. The growth of knowledge in purine and pyrimidine metabolism continues to be exponential. The variety of subjects included in these volumes is impressive. New or previously unrecognized disorders of purine metabolism continue to be uncovered. An entire section on disorders of purine and pyrimidine metabolism other than deficiency of HPRT is led off by two papers on adenylosuccinase deficiency. Among the disorders of pyrimidine metabolism there are papers on orotic aciduria and dihydrothymine dehydrogenase deficiency. Clinical and biochemical studies of gout and urolithiasis continue to be actively pursued. At the same time the study of purine metabolism has become an integral feature of immunology. The importance of purines in clinical oncology was first demonstrated with the synthesis by George Hitchings of 6-mercaptopurine. Its continuing impact on hematology and oncology is seen throughout these volumes, particularly in the effects of inhibition of adenosine deaminase on T cells and on T cell leukemia. This publication has implications for internal medicine, pediatrics, urology, biochemistry, immunology, genetics, hematology, and oncology. Modern molecular biology and techniques involving recombinant DNA were evident in papers on HPRT and on adenosine deaminase, as well as in studies on APRT and UMP synthase. The genes for HPRT, adenosine deaminase and puine nucleoside phosphorylase have been cloned. The background for ultimate approaches to gene therapy in man was provided in papers from Dr. Seegmiller's laboratory on the insertion of HPRT cDNA into human bone marrow cells and on metabolic cooperation. Purine receptors have been discovered in the central nervous system, in lymphocytes and in a variety of other tissues. There are also adenosine receptors in Leishmania and a number of purine riboside analogs are under study as potential therapeutic agents in leishmaniasis.

Purine and Pyrimidine Metabolism in Man V: Basic science aspects

Johannes Zschocke

Georg F. Hoffmann

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

William L. Nyhan

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