Purine Metabolism in Man-IV: Part A: Clinical and Therapeutic Aspects; Regulatory Mechanisms

ISBN-13: 9781468445558 / Angielski / Miękka / 2012 / 555 str.

Chris H. De Bruyn; Chris H. De Bruyn

Opis

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.

Spis treści

of Part A.- I. Recent Advances in Diagnosis and Treatment of Purine and Pyrimidine Disorders.- Phosphoribosyltransferase Deficiencies.- Problems in Diagnosis and Treatment of Adenine and Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.- Problems of Diagnosis in an Adolescent With Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency and Acute Renal Failure.- Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPRT) Deficiency in a Girl.- Clinical and Biochemical Correlates of a New HPRT Mutation.- Enzyme Replacement in the Lesch-Nyhan Syndrome with Long-Term Erythrocyte Transfusions.- Adeninephosphoribosyltransferase (APRT)-Activity in Patients with Nephrolithiasis or Renal Failure.- Adenosine Deaminase Deficiency.- New Perspectives in the Diagnosis and Treatment of Adenosine Deaminase (ADA) Deficiency.- Intravenous Deoxycytidine Therapy in a Patient with Adenosine Deaminase Deficiency.- Properties of a Novel PEG Derivative of Calf Adenosine Deaminase.- Purine Nucleoside Phosphorylase Deficiency.- Purine Nucleoside Phosphorylase (PNP) Deficiency: A Therapeutic Challenge.- The Effect of Deoxycytidine and Tetrahydrouridine in Purine Nucleoside Phosphorylase Deficiency.- Ecto-5?-Nucleotidase Deficiency.- Lymphocyte Ecto-5?-Nucleotidase in Immunodeficiency and Leukaemia.- Xanthine Oxidase Deficiency.- Clinicobiochemical Analysis of 4 Cases with Xanthine Oxidase Deficiency.- Myoadenylate Deaminase Deficiency.- Human Myoadenylate Deaminase Deficiency.- Myoadenylate Deaminase Deficiency: An Enzyme Defect in Search of a Disease.- Phosphoribosylpyrophosphate Synthetase Mutants.- Phosphoribosylpyrophosphate Synthetase Superactivity: Detection, Characterization of Underlying Defects, and Treatment.- Evidence of a New Syndrome Involving Hereditary Uric Acid Overproduction, Neurological Complications and Deafness.- Defects of Pyrimidine Metabolism.- Diagnostic and Therapeutic Approaches in Pyrimidine 5?-Nucleotidase Deficiency.- New Defects of Pyrimidine Metabolism.- II. Hyperuricemia and Gout.- Clinical Survey of 200 Patients with Gout.- Incorporation of 15N from Glycine into Uric Acid in Gout: A Follow-Up Study.- Hyperuricaemía in Young New Zealand Maori Men.- Lean Dry Gout Patients.- Urate Deposits without Gouty Arthritis.- Postheparin Plasma Lipoprotein Lipase and Hepatic Triglyceride Lipase Activities in Gout.- HDL-Cholesterol Levels in Gouty Patients.- Urinary cAMP Excretion in Gouty Patients with and without Nephrolithiasis.- Hyperuricemía in Primary Hyperparathyroidism: Incidence and Evolution after Surgery.- Pilot Study of Blood Coagulation in Gout Patients.- Characterization of an Urate Binding ?2-Globulin from Human Serum.- Metabolic Studies of High Doses of Allopurinol in Humans.- Gout Resistant to Allopurinol: Poor Compliance or Non-Response.- Uricostatic Effect of Allopurinol in the AllantoxanamideTreated Rat: A New Method for Evaluating Antiuricopathic Drugs.- The Excretion of 14C-Hypoxanthine and Its Metabolites in Rats Following Administration of Uricostatic Drugs.- Pulse Radiolysis Study of Hypoxanthine and Xanthine Oxidation.- Urate Crystal-Induced Superoxide Radical Production by Human Neutrophils.- III. Renal Handling of Uric Acid.- Renal Handling of Uric Acid in Normal Subjects: Its Behaviour with Respect to Different Filtered Loads.- Evidence of Abnormal Renal Handling of Uric Acid in Patients with Nephrolíthiasis and Hyperurícosuria.- Renal Handling of Uric Acid in Gout by Means of the Pyrazinamide and Probenecid Tests.- Behaviour of Serum Urate in Renal Disease of Varying Etiology.- Hypouricemia and Medullary Carcinoma of the Thyroid.- IV. Purine and Pyrimidine Metabolism in Relation to Infectious Disease.- Purine Salvage Enzymes in Leishmania Donovani and Trichomonas Vaginalis.- Hypoxanthine Metabolism by Human Malaria Infected Erythrocytes: Focus for the Design of New Anti-Malarial Drugs.- Adenosine Deaminase in Malaria Infection: Effect of 2?-Deoxycoformycin in Vivo.- Pyrazolopyrimídine Metabolism in Leishmania: An Overview.- Single Cell Cloning of Leishmania Parasites in Purinedefined Medium: Isolation of Drug-resistant Variants.- Selectivity of Antiviral Effectiveness Derived from Differences of Herpes Simplex Virus-Coded Thymidine Kinases.- Adenosine Deaminase, Purine Nucleoside Phosphorylase and 5?-Nucleotidase Activities in Infectious Mononucleosis.- T Cell Activation in Typhoid Fever Detected by Increased Levels of Adenosine Deaminase.- V. Clinical Enzymology and Biochemistry.- Optimized Micro-Measurement of H. PRTase Activity on Fibroblasts and Hair Follicles.- Optimal Conditions for Phosphoribosylpyrophosphate Synthesis in a Crude Extract of Liver Cells.- Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography.- A Rapid and Reliable Method for Separation of Ribonucleotides, Deoxynucleotides, and Cyclic Nucleotides by Reversed Phase HPLC.- VI. Parameters of Purine and Pyrimidine Metabolism Under Healthy and Pathological Conditions.- Turnover and Distribution of 14C-Uric Acid in Psoriatic Patients.- Serum Uric Acid Levels in Psoriasis.- Purine Metabolites, Uracil and cAMP During Exchange Transfusion.- Increases in Methylated Nucleosides During Human Pregnancy.- Urinary Excretion of Methylated Nucleosides in Different States of Failure to Thrive.- Regional Variation in Extracellular Purine Levels In Vivo.- Lymphocyte Adenosine Deaminase Levels in Active and in Inactive Forms of HBsAg-Positive Chronic Liver Disease.- VII. Dietary Effects on Purine and Pyrimidine Metabolism.- Effect of Purine Restriction on Serum and Urine Urate in Normal Subjects.- Isotope Studies of Uric Acid Metabolism during Dietary Purine Administration.- Influence of Dietary Purines on Allopurinol Metabolism and Allopurinol Induced Oroticaciduria.- The Effect of Beer Ingestion on Plasma and Urine Uric Acid in Gout and Normouricaemic Subjects.- Influence of Purines on Pyrimidine Metabolism in Rat Hepatocytes.- Effects of Glycerol on Purine Metabolism in Rat Liver Cells.- VIII. Purine Metabolism in Erythrocytes.- Purine Release by Human Erythrocytes.- Use of Adenine in Blood Banking.- Substance Rates of Different Steps of Purine Metabolism in Normal and Preserved Red Blood Cells (RBC) Studied in Experiments Simulating in Vivo Conditions.- Biochemical Study of a Case of Hemolytic Anemia with Increased (85-fold) Red Cell Adenosine Deaminase.- Impaired Metabolism of Deoxyadenosine in Uremic Erythrocytes.- Nucleotide Levels and Metabolism of Adenosine and Deoxyadenosine in Intact Erythrocytes Deficient in Adenosine Deaminase.- Orotate Uptake and Metabolism by Human Erythrocytes.- IX. Genetic and Molecular Studies.- IMP Dehydrogenase Mutants: Cell Culture Model for Hyperuricemia.- Basic Molecular Defect in ADA-SCID.- Genetic Mechanism(s) Responsible for a Deficiency of Adenine Phosphoribosyltransferase in Man.- Correlation between a Mutant APRT Protein and Altered DNA in CHO Cells.- Purine, Thymídylate and Amino Acid Requirements for Human Lyphocyte Transformation and Fragile Chromosome Site Expression.- Genetic Variability of Purine Nucleoside Phosphorylase in the Mouse.- Deoxycoformycin Resistant Mammalian Cells that Overproduce Adenosine Deaminase.- Characterization and Use of Cloned Sequences of the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.- Southern Analysis of the Lesch-Nyhan Locus in Man.- X. Regulatory Mechanisms.- De Novo Purine Synthesis.- De Novo Purine Synthesis in Human Lymphocytes.- Human Phosphoribosylpyrophosphate (PRPP) Synthetase Requirements for Subunit Aggregation.- The Hormonal Regulation of Purine Biosynthesis.- The Hormonal Regulation of Purine Biosynthesis: Basal Levels of Different Hormones in Primary Gout.- Regulation of De Novo Purine Biosynthesis in Chinese Hamster Cells.- Regulatory Studies on Purine Biosynthesis in the Chick.- The Chronologically Synchronous Elevation of Phosphoribosylpyrophosphate and Cyclic AMP in Regenerating Rat Liver.- Purine Interconversions and Catabolism.- Ethanol Induced Alterations of Uric Acid Metabolism.- Influence of Ethanol on the Production of Allantoin by the Perfused Rat Liver.- The Pathway of AMP Catabolism and Its Control in Isolated Rat Hepatocytes Subjected to Anoxia.- Stimulation by Adenosine of Adenine Nucleotide Turnover in Isolated Hepatocytes: Evidence for a Futile Cycle between AMP and Adenosine.- Effects of Fructose on Purine Nucleotide Metabolism in Isolated Rat Hepatocytes 481.- Effect of Hormones on Adenine and Adenosine Metabolism in Mammary Gland in Vitro.- Nucleoside Utilization by S and G1 Cells.- Evidence for an Adenosine Receptor in Human Tissues.- Adenosine Receptors on Human Inflammatory Cells.- Biochemical Mechanisms for Sex Specific Differences of Rat Liver Xanthine Oxidase.- Imprinting by the Neonatal Testis: A Mechanism for Sexual Dimorphism of Rat Liver Xanthine Oxidase.- XI. Pathways of Pyrintdine Metabolism.- Pyrimidine Metabolism in Folate Deficient Lymphoblasts.- Pyrimidine Metabolism in Rat Brain Cortex and Liver.- Evidence for a Distinct Deoxypyrimidine 5?-Nucleotidase in Human Tissues.- The Effect of 5-Fluoroorotic Acid on the Early Labelling of Nucleotides and RNA in Whole Liver and of RNA in Sub-Nuclear Fractions in Rats Given 3H-Orotic Acid.- XII. Pharmacology.- The Effect of Dipyridamole on Plasma Adenosine Levels and Skin Micro-Circulation in Man.