Purine and Pyrimidine Metabolism in Man VI: Part A: Clinical and Molecular Biology

Front Matter....Pages i-xiii
NAD Synthesis by Erythrocytes in Phosphoribosylpyrophosphate Synthetase (PRPPs) Superactivity....Pages 1-7
Increased Purine Nucleotide Degradation in the Central Nervous System (CNS) in PRPP Synthetase Superactivity....Pages 9-13
Neurodevelopmental Impairment and Deranged PRPP and Purine Nucleotide Synthesis in Inherited Superactivity of PRPP Synthetase....Pages 15-22
Studies of Mutant Human Adenylosuccinate Lyase....Pages 23-30
Deficiency of AMP Deaminase in Human Erythrocytes....Pages 31-34
Erythrocyte Adenine PRPP Availability in Two Types of APRT Deficiency Using Silicon Oil Method....Pages 35-41
Human Adenine Phosphoribosyltransferase (APRT) Deficiency: Single Mutant Allele Common to the Japanese....Pages 43-49
Diagnosis of Genotypes for Adenine Phosphoribosyltransferase (APRT) Deficiency....Pages 51-58
High-Performance Liquid Chromatographic Method for Simultaneous Screening of the Deficiencies of APRT and HPRT....Pages 59-65
Guanine Nucleotide Metabolism in Red Blood Cells: The Metabolic Basis for GTP Depletion in HGPRT and PNP Deficiency....Pages 67-71
Clinico-Biochemical and Molecular Studies of Purine Nucleoside Phosphorylase Deficiency....Pages 73-79
ATP-Dependent Mineralization of Hyaline Articular Cartilage Matrix Vesicles....Pages 81-85
Hereditary Xanthine Oxidase Deficiency Consisting of at least Two Subgroups....Pages 87-91
Family Study of Hereditary Xanthinuria — Decreased Duodenal Xanthine Oxidase Activity and Increased Urinary Excretion of Xanthine and Hypoxanthine in Heterozgotes....Pages 93-96
Further Evidence for a ‘New’ Purine Defect, Inosine Triphosphate (ITP) Pyrophosphohydrolase Deficiency....Pages 97-102
ITP-Pyrophosphohydrolase and Purine Metabolism in Human Erythrocytes....Pages 103-110
Comparative Study of Thymine and Uracil Metabolism in Healthy Persons and in a Patient with Dihydropyrimidine Dehydrogenase Deficiency....Pages 111-118
A Screening Method for Dihydropyrimidine Dehydrogenase Deficiency with Colorimetric Detection of Urinary Uracil....Pages 119-122
Simple Screening Methods for Disorders of Purine Metabolism Using Dried Blood and or Urine Spots on Filter Paper....Pages 123-127
The Spectrum of HPRT Deficiency: An Update....Pages 129-133
Lesch-Nyhan Syndrome due to a Single Nucleotide Change in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene (HPRT Yale )....Pages 135-138
Structural Consequences of Point Mutations in Nine Human HPRT Variants....Pages 139-143
Lesch-Nyhan Syndrome and HPRT Variants: Study of Heterogeneity at the Gene Level....Pages 145-150
Characterization of Genomic DNA, mRNA and Enzyme Protein in Cases of HPRT Deficiency....Pages 151-154
Is HPRT-like Protein Present in Lesch-Nyhan Patients?....Pages 155-158
Lesch-Nyhan Syndrome: Reduced Amino Acid Concentrations in CSF and Brain....Pages 159-163
Hypoxanthine Accumulation and Dopamine Depletion in Lesch-Nyhan Disease....Pages 165-172
Hypoxanthine and Xanthine Transport through the Blood-Brain Barrier in Hypoxanthine Phosphoribosyltransferase (HPRT) Deficiency....Pages 173-179
Cerebrospinal Fluid Cyclic Nucleotide Alterations in the Lesch-Nyhan Syndrome....Pages 181-184
Purine Nucleotide Restoration in HPRT - Cells....Pages 185-188
Clinical Aspects of Gouty Patients in Taiwan....Pages 189-195
Can Risk Scores for Vascular Disease in Gout Patients be Improved?....Pages 197-204
A Model of Gout Nephropathy....Pages 205-209
Hyperuricemia, Gout and Idiopathic Aseptic Necrosis of Bone....Pages 211-214
The Solubility of Uric Acid and Monosodium Urate in Urine....Pages 215-218
A Role of Interleukin-1 (IL-1) in Crystal-Induced Arthritis....Pages 219-224
Is Gout Related to an Alteration of the Uric Acid Protein Binding?....Pages 225-232
Urate Binding Globulin, Interactions with Immunoglobulins....Pages 233-237
Behavior of Oxypurines in Normal Subjects After an 8 Day Purine-Free Diet....Pages 239-242
Should Dietary Restrictions Always Be Prescribed in the Treatment of Gout?....Pages 243-246
Activity and Effect of Purine Metabolizing Enzymes in the Digestive Tract....Pages 247-250
Intermittent Control of Hyperuricaemia in the Treatment of Gout....Pages 251-255
The Allopurinol Hypersensitivity Syndrome: Its Relation to Plasma Oxypurinol Levels....Pages 257-260
Fungalbionics: A New Concept of the Etiology of Gout, Hyperuricemia and their Related Diseases....Pages 261-268
Impaired Renal Excretion of Hypoxanthine and Xanthine in Primary Gout....Pages 269-276
Renal Excretions of Oxypurinol and Oxypurines — Effects of Pyrazinamide, Probenecid and Benzbromarone....Pages 277-281
Renal Excretion of Purine Bases — Effects of Probenecid, Benzbromarone and Pyrazinamide....Pages 283-287
Hyperuricemia and Gout in Cyclosporin A-Treated Renal Transplant Recipients....Pages 289-292
Stop-Flow Studies on Tubular Transport of Uric Acid in Rats....Pages 293-300
The Activity of AA-193, A New Uricosuric Agent, in Animals....Pages 301-308
Renal Handling of Hypoxanthine and Xanthine in Normal Subjects and in Cases of Idiopathic Renal Hypouricemia....Pages 309-315
D-Xylulose-Induced Depletion of ATP and P i and Increase in PRPP in Isolated Rat Hepatocytes....Pages 317-323
Red Blood Cell Morphology in Chronic Obstructive Pulmonary Disease: Effect of Oxygen Therapy versus Allopurinol....Pages 325-331
Enhanced Adenine Nucleotide Degradation in Chronic Obstructive Pulmonary Disease: The Effect of Oxygen Therapy....Pages 333-338
Purine Metabolites as Measures of Birth Asphyxia and Predictors of Brain Damage....Pages 339-344
Erythrocyte ATP (iATP) as an Indicator of Neonatal Hypoxia....Pages 345-352
Degradation of Purine Nucleosides by Mitochondrial Enzymes of Bovine Liver....Pages 353-357
AMP Catabolism in Primary Rat Cardiomyocyte Cultures....Pages 359-362
Purine Degradation in Contracting Fast and Slow Muscles of Rats....Pages 363-367
Persistent Production of Hypoxanthine in Rat Skeletal Muscle Causes Prolonged Hyperuricemia after an Enhaustice Exercise....Pages 369-374
Exercise Induced Alteration of Erythrocyte Glycolysis Associated with Myogenic Hyperuricemia....Pages 375-379
Myogenic Hyperuricemia: A Comparative Study between Type V and Type VII Glycogenosis....Pages 381-386
Uric Acid and Purine Compounds in Aortic and Coronary Sinus Blood in Man....Pages 387-391
Purine Catabolic Enzymes in Human Synovial Fluids....Pages 393-398
Changes in Trophoblastic Purine Metabolism with Aging of the Placenta....Pages 399-406
Evaluation of Oxypurines by HPLC in Lymphoproliferative Diseases....Pages 407-410
Chemiluminescent Assays in the Study of Purine Metabolism....Pages 411-415
Isozyme Shift of Adenylosuccinate Synthase in Rat and Human Neoplasms....Pages 417-421
Purine Nucleotide Synthesis during Terminal Differentiation....Pages 423-426
Activity of 2-Chloro-2′-Deoxyadenosine in Chronic Lymphocytic Leukemia, Hairy Cell Leukemia, and Autoimmune Hemolytic Anemia....Pages 427-431
Purine and Pyrimidine Metabolism of Normal and Leukemic Lymphocytes....Pages 433-438
 In Vitro and In Vivo Inhibition of Thymidylate Synthase of Human Colon Cancer by 5-Fluorouracil....Pages 439-445
Sensitivity to Purine Analogues in Childhood Leukemia Assessed by the Automated MTT-Assay....Pages 447-454
Selective Inhibition of Cytotoxic T Lymphocyte Proliferation by Mizoribine (Bredinin), an Adenosine Analog....Pages 455-460
Restriction Fragment Length Polymorphisms of HPRT and APRT Genes in Japanese Population....Pages 461-465
An Analysis of 5′ Regulatory Sequences of the Hamster APRT Gene....Pages 467-473
Effect of Alterations of the ATG Translation Start Codon of the APRT Gene....Pages 475-480
Sequencing of Mammalian Messenger RNA Using Oligonucleotide Primers: Application to Hypoxanthine Phosphoribosyltransferase and a Phosphoglycerate Kinase Variant....Pages 481-484
Molecular Aspect of Myogenic Hyperuricemia: Cloning of Human Muscle Phosphofructokinase cDNA....Pages 485-491
Autosomal Dominant Hemolytic Anemia and Adenosine Deaminase Overproduction....Pages 493-497
Cloning the Full-Length cDNA for the Porcine Urate Oxidase by the MOPAC Generated Probe....Pages 499-505
Sequence Analysis of Rat Liver Uricase-cDNA and the Possible Presence of the Homologous cDNA Sequences in Chicken Embryo....Pages 507-510
Molecular Cloning of Human UMP Synthase....Pages 511-518
Deduced Amino Acid Sequence from Human Phosphoribosylpyrophosphate Synthetase Subunit II cDNA....Pages 519-523
Analysis of Molecular Structure of Rat Phosphoribosylpyrophosphate Synthetase Genes....Pages 525-530
Controllable Expression of an E. Coli Amidophosphoribosyltransferase (ATase) Gene in ATase-Deficient Mammalian Fibroblasts—a Basic Model for Gene Therapy....Pages 531-536
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....Pages 537-542
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....Pages 543-547
Transfer of Human HPRT Gene Sequence into Neuronal Cells by a Herpes Simplex Virus Derived Vector....Pages 549-554
Back Matter....Pages 555-560