These two volumes contain articles presented at the Vlth International Symposium on Human Purine and Pyrimidine Metabolism held in Hakone, Japan ,July 17 trough 21, 1988. The first meeting of this series of symposia convened in Tel Aviv, Israel, and since then meetings have taken place every three years in various parts of the world. The second meeting was held in Baden, Austria, the third in Madrid, Spain, the fourth in Maastricht, the Netherlands, and fifth in San Diego, California. The Vlth meeting in Hakone marked the first such symposium held in Asia. On occasion of publishing these books, I would like to describe how research in this field has evolved in Japan. Early in the 1950s, I was engaged in clinical practice treating various rheumatic diseases as an orthopedicist, and found that a substantial percentage of our patients had symptoms apparently compatible with gout. During the 1960s, the number of these gouty patients increased, and in the 1970s, research on the pathogenesis of gout was performed on the basis of approximately 2,000 cases of this disease, together with precise epidemiological studies concerning gouty and hyperuricemic individuals.
Data derived from the two kinds of study had greatly changed the notion that gout was a rare disease among Japanese. My clinical studies have been succeeded by research at the molecular level on various purine metabolic abnormalities, including not only gout but also other diseases with various symptoms of wide clinical spectra.
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Schweitzer Klassifikation
Human Diseases and Enzyme Abnormauties.- NAD Synthesis by Erythrocytes in Phosphoribosylpyrophosphate Synthetase (PRPPs) Superactivity.- Increased Purine Nucleotide Degradation in the Central Nervous System (CNS) in PRPP Synthetase Superactivity.- Neurodevelopmental Impairment and Deranged PRPP and Purine Nucleotide Synthesis in Inherited Superactivity of PRPP Synthetase.- Studies of Mutant Human Adenylosuccinate Lyase.- Deficiency of AMP Deaminase in Human Erythrocytes.- Erythrocyte Adenine PRPP Availability in Two Types of APRT Deficiency Using Silicon Oil Method.- Human Adenine Phosphoribosyltransferase (APRT) Deficiency: Single Mutant Allele Common to the Japanese.- Diagnosis of Genotypes for Adenine Phosphoribosyltransferase (APRT) Deficiency.- High-Performance Liquid Chromatographic Method for Simultaneous Screening of the Deficiencies of APRT and HPRT.- Guanine Nucleotide Metabolism in Red Blood Cells: The Metabolic Basis for GTP Depletion in HGPRT and PNP Deficiency.- Clinico-Biochemical and Molecular Studies of Purine Nucleoside Phosphorylase Deficiency.- ATP-Dependent Mineralization of Hyaline Articular Cartilage Matrix Vesicles.- Hereditary Xanthine Oxidase Deficiency Consisting of at least Two Subgroups.- Family Study of Hereditary Xanthinuria - Decreased Duodenal Xanthine Oxidase Activity and Increased Urinary Excretion of Xanthine and Hypoxanthine in Heterozygotes.- Further Evidence for a 'New' Purine Defect, Inosine Triphosphate (ITP) Pyrophosphohydrolase Deficiency.- ITP-Pyrophosphohydrolase and Purine Metabolism in Human Erythrocytes.- Comparative Study of Thymine and Uracil Metabolism in Healthy Persons and in a Patient with Dihydropyrimidine Dehydrogenase Deficiency.- A Screening Method for Dihydropyrimidine Dehydrogenase Deficiency with Colorimetric Detection of Urinary Uracil.- Simple Screening Methods for Disorders of Purine Metabolism Using Dried Blood and or Urine Spots on Filter Paper.- Hgprt Deficiencies and Lesch-Nyhan Syndrome.- The Spectrum of HPRT Deficiency: An Update.- Lesch-Nyhan Syndrome due to a Single Nucleotide Change in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene (HGPRT Yale).- Structural Consequences of Point Mutations in Nine Human HPRT Variants.- Lesch-Nyhan Syndrome and HPRT Variants: Study of Heterogeneity at the Gene Level.- Characterization of Genomic DNA, mRNA and Enzyme Protein in Cases of HPRT Deficiency.- Is HPRT-like Protein Present in Lesch-Nyhan Patients?.- Lesch-Nyhan Syndrome: Reduced Amino Acid Concentrations in CSF and Brain.- Hypoxanthine Accumulation and Dopamine Depletion in Lesch-Nyhan Disease.- Hypoxanthine and Xanthine Transport through the Blood-Brain Barrier in Hypoxanthine Phosphoribosyltransferase (HPRT) Deficiency.- Cerebrospinal Fluid Cyclic Nucleotide Alterations in the Lesch-Nyhan Syndrome.- Purine Nucleotide Restration in HPRT* Cells.- Gout and Uric Acid.- Clinical Aspects of Gouty Patients in Taiwan.- Can Risk Scores for Vascular Disease in Gout Patients Be Improved?.- A Model of Gout Nephropathy.- Hyperuricemia, Gout and Idiopathic Aseptic Necrosis of Bone.- The Solubility of Uric Acid and Monosodium Urate in Urine.- A Role of lnterleukin-1 (IL-1) in Crystal-Induced Arthritis.- Is Gout Related to an Alteration of the Uric Acid Protein Binding?.- Urate Binding Globulin, Interactions with Immunoglobulins.- Behavior of Oxypurines in Normal Subjects After an 8 Day Purine-Free Diet.- Should Dietary Restrictions Always Be Prescribed in the Treatment of Gout?.- Activity and Effect of Purine Metabolizing Enzymes in the Digestive Tract.- Intermittent Control of Hyperuricaemia in the Treatment of Gout.- The Allopurinol Hypersensitivity Syndrome: Its Relation to Plasma Oxipurinol Levels.- Fungalbionics: A New Concept of the Etiology of Gout, Hyperuricemia and their Related Diseases.- Renal Handling of Oxypurines.- Impaired Renal Excretion of Hypoxanthine and Xanthine in Primary Gout.- Renal Excretions of Oxypurinol and Oxypurines - Effects of Pyrazinamide, Probenecid and Benzbromarone.- Renal Excretion of Purine Bases - Effects of Probenecid, Benzbromarone and Pyrazinamide.- Hyperuricemia and Gout in Cyclosporin A-Treated Renal Transplant Recipients.- Stop-Flow Studies on Tubular Transport of Uric Acid in Rats.- The Activity of AA-193, A New Uricosuric Agent, in Animals.- Renal Handling of Hypoxanthine and Xanthine in Normal Subjects and in Cases of Idiopathic Renal Hypouricemia.- Nucleotide Catabousm.- D-Xylulose-Induced Depletion of ATP and Pi and Increase in PRPP in Isolated Rat Hepatocytes.- Red Blood Cell Morphology in Chronic Obstructive Pulmonary Disease: Effect of Oxygen Therapy versus Allopurinol.- Enhanced Adenine Nucleotide Degradation in Chronic Obstructive Pulmonry Disease: The Effect of Oxygen Therapy.- Purine Metabolism as Measures of Birth Asphyxia and Predictors of Brain Damage.- Erythrocyte ATP (iATP) as an Indicator of Neonatal Hypoxia.- Degradation of Purine Nucleosides by Mitochndrial Enzymes of Bovine Liver.- AMP Catabolism in Primary Rat Cardimyocyte Cultures.- Muscle and Purine Metabolsim.- Purine Degradation in Contracting Fast and Slow Muscles of Rats.- Persistent Production of Hypoxanthine in Rat Skeletal Muscle Causes Prolonged Hyperuricemia after an Enhaustice Exercise.- Exercise Induced Alteration of Erythrocyte Glycolysis Associated with Myogenic Hyperuricemia.- Myogenic Hyperuricemia: a Comparative Study between Type V and Type VII Glycogenosis.- Purine Metabolism in Human Tissue.- Uric Acid and Purine Compounds in Aortic and Coronary Sinus Blood in Man.- Purine Catabolic Enzymes in Human Synovial Fluids.- Changes in Trophoblastic Purine Metabolism with Aging of the Placenta.- Evaluation of Oxypurines by HPLC in Lymphoproliferative Diseases.- Chemiluminescent Assays in the Study of Purine Metabolism.- Isozyme Shift of Adenylosuccinate Synthase in Rat and Huamn Neoplasms.- Purine Nucleotide Synthesis during Terminal Differentiation.- Anti-Cancer Purine and Pyrimidine Analogs Cunical Aspects.- Activity of 2-Chloro-2?-Deoxyadenosine in Chronic Lymphocytic Leukemia, Hairy Cell Leukemia, and Autoimmune Hemolytic Anemia.- Purine and Pyrimidine Metabolism of Normal and Leukemic Lymphocytes.- In Vitro and In Vivo Inhibition of Thymidylate Synthase of Human Colon Cancer by 5-Fluorouracil.- Sensitivity to Purine Analogues in Childhood Leukemia Assessed by the Automated MTT-Assay.- Selective Inhibition of Cytotoxic T Lymphocyte Proliferation by Mizoribine (Bredinin), an Adenosine Analog.- Molecular Genetics of Purine and Pyrimidine Enzymes.- Restriction Fragment Length Polymorphisms of HPRT and APRT Genes in Japanese Population.- An Analysis of 5? Regulatory Sequences of the Hamster APRT Gene.- Effect of Alterations of the ATG Translation Start Codon of the APRT Gene.- Sequencing of Mammalian Messenger RNA Using Oligonucleotide Primers: Application to Hypoxanthine Phosphoribosyltransferase and a Phosphoglycerate Kinase Variant.- Molecular Aspect of Myogenic Hyperuricemia: Cloning of Human Muscle Phosphofructokinase cDNA.- Autosomal Dominant Hemolytic Anemia and Adenosine Deaminase Overproduction.- Cloning the Full-Length cDNA for the Porcine Urate Oxidase by the MOPAC Generated Probe.- Sequence Analysis of Rat Liver Uricase-cDNA and the Possible Presence of the Homologous cDNA Sequences in Chicken Embryo.- Molecular Cloning of Human UMP Synthase.- Deduced Amino Acid Sequence from Human Phosphoribosylpyrophosphate Synthetase Subunit II cDNA.- Analysis of Molecular Structure of Rat Phosphoribosylpyrophosphate Synthetase Genes.- Approaches to the Gene Therapy.- Controllable Expression of an E. Coli Amidophosphoribosyltransferase (ATase) Gene in ATase-Deficient Mammalian Fibroblasts- a Basic Model for Gene Therapy.- Two Types of Mouse FM3A Cell Mutants Deficient in 5-Aminoimidazole-4-Carboxamide Ribonucleotide Transformylase and their Transformants Isolated by Human Chromosome-Mediated Gene Transfer.- Immunological and Metabolic Reconstitution Following Successful Bone Marrow Transplantation from a HLA-Identical Sibling in an Infant with Adenosine Deaminase Deficeincy and Severe Combined Immunodeficiency: Partial Restoration of Purine Metabolism.- Transfer of Human HPRT Gene Sequence into Neuronal Cells by a Herpes Simplex Virus Derived Vector.- Contributors.
