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Author: Oded Sperling Publisher: Springer Science & Business Media ISBN: 1475714335 Category : Science Languages : en Pages : 453
Book Description
Gout and urie 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 urie acid excretion, although still posing difficult problems, appears to approach clari fication.
Author: Mathias M. Muller Publisher: Springer Science & Business Media ISBN: 1468432850 Category : Science Languages : en Pages : 396
Book Description
The study of gouty arthritis has provided a common meeting ground for the research interests of both the basic scientist and the clinician. The interest of the chemist in gout began 1776 with the isolation of uric acid from a concretion of the urinary tract by the Swedish chemist SCHEELE. The same substance was subsequently extracted from a gouty tophus by the British chemist WOLLASTONE in 1797 and a half century later the cause of the deposits of sodium urate In such tophi was traced to a hyperuricemia in the serum of gouty patients by the British physician Alfred Baring GARROD who had also received training in the chemical laboratory and was therefore a fore-runner of many of today's clinician-investigators. The recent surge of progress in understanding of some of the causes of gout in terms of specific enzyme defects marks the entrance of the biochemist into this field of investigation. The identification of the first primary defect of purine metabolism associated with over-production of uric acid, a severe or partial deficiency of the enzyme hypoxanthine-guanine phospho ribosyl transferase was achieved less than a decade ago. The knowledge of the mechanism of purine over-production that it generated led shortly to the identification of families carrying a dominantly (possibly X-linked) inherited increase in the activity of the enzyme phosphoribosylpyrophosphate synthetase as a cause of purine over-production. Yet this is only a start as these two types of enzyme defects account for less than five per cent of gouty patients.
Author: Oded Sperling Publisher: Springer Science & Business Media ISBN: 146843294X Category : Science Languages : en Pages : 363
Book Description
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 clari fication.
Author: Chris H. De Bruyn Publisher: Springer Science & Business Media ISBN: 1468445537 Category : Science Languages : en Pages : 533
Book Description
These two volumes, entitled "Purine Metabolism in Man IV" con tain the paper presented at the "IV. International Symposium on Human Purine and Pyrimidine Metabolism," held in Maastricht (The Netherlands), June 1982. The proceedings of the three previous meet ings in Tel Aviv (Israel, 1973), Baden (Austria, 1976) and Madrid (Spain, 1979) were also published by Plenum Press. In the past few years interest in purine and pyrimidine metabo lism under normal and pathological conditions has been growing rapid ly. Apart from the more or less classical topics such as hyperuricae mia, clinical gout and urolithiasis, an increasing number of papers relating to other fields have been presented at successive meetings. Knowledge derived from the study of purine metabolism in relation to lymphocyte function, for instance, has opened up new possibilities for immunomodulation and leukaemia chemotherapy, with eventual conse quences for other types of cancer. At previous meetings there have been pointers implicating purine metabolism in relation to normal cardiac and skeletal muscle function. During the present meeting much new data on both issues have been re ported which indicate clear differences in the pathways of ATP metabo lism. The widening of the field of interest is also illustrated by the recent work on infectious disease: exploitation of the differences in purine metabolic pathways in certain parasites compared with those in human cells has resulted in new rationales for therapy being devel oped.
Author: Andrea Griesmacher Publisher: Springer Science & Business Media ISBN: 9780306457784 Category : Medical Languages : en Pages : 904
Book Description
Presented at the joint symposium held in Gmunden, Austria in June 1997 (and dedicated to the memory of Andre deVries), these 164 papers are relevant to research interests in molecular biology, biochemical pharmacology, biochemistry, developmental biology, immunology, epidemiology, and clinical applications. Topics are presented in 13 sections: gout, adenosine workshop, inborn errors of purine and pyrimidine (PP) metabolism, regulation and enzymes of PP metabolism, NMR in study of purines and energy metabolism, mutations, effects of hypoxia, free radicals, or reperfusion injury on purine, purines and signal transduction, hot research areas, immuomodulations by PP, PP in cell differentiation, the impact of PP on therapeutic strategies, and miscellaneous topics. Israel is the venue for 2000.
Author: Amrik Sahota Publisher: Springer Science & Business Media ISBN: 1461525845 Category : Medical Languages : en Pages : 814
Book Description
These volumes record the presentations made at the VIII International Symposium on Purine and Pyrimidine Metabolism in Manheld at Indiana University, Bloomington, USA from May 22- May 27, 1994. This was a continuation of meetings held every three years with the idea of bringing clinicians and basic scientists together, which we hope results in cross-fertilization of ideas. Some of the papers presented in this volume represent oral contributions and others are from posters, but we emphasize that both are considered of equal merit. As is obvious from a perusal of the titles of the papers there has been a shift in the focus of this meeting, which reflects a general shift in the area of purine and pyrimidine metabolism. The emphasis has definitely shifted to gene structure and molecular genetics, with the beginnings we hope of gene therapy as an important branch of this area of science. Although many of the inherited diseases discussed in this text can be treated with drugs, the major thrust in the futurewill be in gene therapy, where the gene (or cDNA) will be used to treat the patient with enzyme deficiency, particularly if the patient is young. As can be seen from the Iist of authors there is a remarkable degree of international cooperation in this area across countries and continents. We thank the many participants who have attended these symposia many times, and we welcome the large group of scientists from Eastern Europe who are attending this meeting for the first time.
Author: Uttam Garg Publisher: Elsevier ISBN: 0128029188 Category : Medical Languages : en Pages : 477
Book Description
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Author: Oded Sperling Publisher: Springer ISBN: Category : Science Languages : en Pages : 404
Book Description
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 clari fication.
Author: Bertil B. Fredholm Publisher: Springer Science & Business Media ISBN: 3642134432 Category : Medical Languages : en Pages : 566
Book Description
In the present volume of the Handbook of Experimental Pharmacology well known experts describe the actions of different xanthines with a focus on caffeine and theophylline. A special chapter is devoted to theobromine, an active component of chocolate, the actions of which are less well characterized. This book also presents the pharmacology of one xanthine derivative, propentofylline, as an example of a xanthine that has gone through extensive development for a novel therapeutic area.
Author: Oded Sperling
Author: Mathias M. Muller
Author: Oded Sperling
Author: A. Rapado
Author: Chris H. M. M. de Bruyn
Author: Chris H. De Bruyn
Author: Andrea Griesmacher
Author: Amrik Sahota
Author: Uttam Garg
Author: Oded Sperling
Author: Bertil B. Fredholm