Purine metabolism in man: enzymes and metabolic pathways

Gout and uric acid lithiasis are known to have affected mankind for thousands of years. It is only recently, however, that great progress has been made in the understanding of the processes involved in purine metabolism and its disorders in man. The key enzymes active in the various pathways of purine synthesis and degradation have become known and their properties are the subject of intensive study. Major contributions to the knowledge of normal purine metabolism in man have derived from the study of inborn errors in patients with purine disorders, specifically complete and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. Mutations of other enzymes involved in purine metabolism are being discovered. A great step forward has been made in the treatment of gout with the introduction of uricosuric drugs and more recently of the hypoxanthine analogue allopurinol, a synthetic xanthine oxidase inhibitor. Furthermore, the complex nature of the renal handling of uric acid excretion, although still posing difficult problems, appears to approach clarification. In view of the intensive research on purine metabolism going on in various laboratories all over the world it was felt by several investigators in this field that the time was appropriate to convene a symposium dedicated to this subject. This book is the first of its kind, was therefore organized and held in Tel-Aviv, June 17 to 22, 1973. The meeting dealt with the various aspects of purine metabolism and its disorders - biochemistry, enzyme mutations, genetics, methodology, clinical aspects and treatment. This volume contains the full reports of all communications made at the symposium.