Urea Cycle Diseases

Front Matter....Pages i-xiii
Front Matter....Pages xv-xv
Introduction....Pages 1-3
New Facets in Urea Cycle Disorders....Pages 5-6
Front Matter....Pages 7-7
Newborn Screening for Urea Cycle Disorders....Pages 9-18
A New Method for Screening of Hyperammonemia....Pages 19-27
Immobilization of Multienzymes of Urea Cycle into Fibrin Membrane: An Approach to an Artificial Liver....Pages 29-35
N-Acetylglutamate Synthetase (NAGS) Deficiency : Diagnosis, Clinical Observations and Treatment....Pages 39-45
Ornithine Transcarbamylase (OTC) in White Blood Cells and Jejunal Mucosa....Pages 47-52
Immunochemical Assay in 16 Boys with Ornithine Transcarbamylase Deficiency....Pages 53-62
Enzymatic Analysis of Citrullinemia (12 Cases) in Japan....Pages 63-76
Qualitative Abnormality of Liver Argininosuccinate Synthetase in a Patient with Citrullinemia....Pages 77-82
Argininosuccinic Aciduria in Adult : A Clinical, Electrophysiological and Biochemical Study....Pages 83-93
First Case of Argininosuccinic Aciduria in Japan : Clinical Observations and Treatment....Pages 95-100
Complementation in Argininosuccinate Synthetase and Argininosuccinate Lyase Deficiencies in Human Fibroblasts....Pages 101-110
Clinical and Biochemical Findings in Argininemia....Pages 111-119
Argininemia: Report of a New Case and Mechanisms of Orotic Aciduria and Hyperammonemia....Pages 121-125
Therapy of Neonatal Onset Urea Cycle Enzymopathies (UCE)....Pages 127-127
Introduction to the Session on Secondary and Transient Hyperammonemia....Pages 131-133
Hyperammonemia Secondary to Hereditary Organic Acidurias : A Study of 29 Cases....Pages 135-140
Neonatal Isovaleric Acidemia Associated with Hyperammonemia....Pages 141-146
Hyperammonemia in the Neonate with Hypoxia....Pages 147-152
Front Matter....Pages 7-7
A Mechanism for Valproate-Induced Hyperammonemia....Pages 153-161
Reduced Activity of OTC in the Liver of a Patient with Reye’s Syndrome....Pages 163-170
Spontaneous Animal Models of Ornithine Transcarbamylase Deficiency: Studies on Serum and Urinary Nitrogenous Metabolites....Pages 173-183
Sparse-Fur Mutation : A Model for Some Human Ornithine Transcarbamylase Deficiencies....Pages 185-194
Front Matter....Pages 195-195
Regulation of the N-Acetylglutamate Content of Rat Hepatocytes by the Glutamate Concentration....Pages 197-205
Enzyme Regulation of N -Acetylglutamate Synthesis in Mouse and Rat Liver....Pages 207-216
Acute Glucagon Treatment in Rats Fed Various Protein Diets Effect on N-Acetyl Glutamate Concentration....Pages 217-228
The Relation Between the Developmental Timing of Birth and Developmental Increases in Urea Cycle Enzymes....Pages 229-240
Studies on the Enzymes of Urea Cycle Intermediates in Normal and Infarcted Myocardial Tissue of Rat....Pages 241-241
Effects of Arginine-Free Meals on Ureagenesis in Cats....Pages 243-243
Dynamism of Rat Liver Ornithine Metabolisms in Relation to Dietary High-Protein Stimulation of the Urea Cycle....Pages 245-254
Regulation of Urea Synthesis : Changes in the Concentration of Ornithine in the Liver Corresponding to Changes in Urea Synthesis....Pages 255-263
Synthesis and Intracellular Transport of Mitochondrial Carbamyl Phosphate Synthetase I and Ornithine Transcarbamylase....Pages 267-276
Isolation of Argininosuccinase from Bovine Brain : Catalytic, Physical and Chemical Properties Compared to Liver and Kidney Enzymes....Pages 277-289
On the Mechanism of the Alterations of Rat Kidney Transamidinase Activities by Diet and Hormones....Pages 291-297
Sciatectomic Stimulation of Muscle Arginase and Its Implications....Pages 299-301
Enzymes of Arginine Metabolism in the Lizard Calotes Versicolor ....Pages 303-310
Orotic Acid in Urine and Hyperammonemia....Pages 313-319
Comparison between Amino Acids and Orotic Acid Analysis in the Detection of Urea Cycle Disorders in the Quebec Urinary Screening Program....Pages 321-329
Transient Hyperammonemias in Infants with and without Organic Acidemia....Pages 331-338
Front Matter....Pages 195-195
Mechanism of Hyperammonemia in an Experimental Model of Propionic Acidemia....Pages 339-339
The Study of Organic Acids Metabolism in a Patient with Ornithine Transcarbamylase (OTC) Deficiency....Pages 341-350
Hyperornithinemia, Gyrate Atrophy, and Ornithine Ketoacid Transaminase....Pages 353-358
Gyrate Atrophy of the Choroid and Retina (GA) : Toxic Effects of Ornithine and Long-Term Therapy with an Arginine-Restricted Diet....Pages 359-359
Disease of Ornithine-Proline Pathway: A △ 1 -pyrroline-5-carboxylate Reductase Deficiency in the Retina of Retinal Degeneration Mice....Pages 361-370
Toxic Effects of Ornithine and Its Related Compounds on the Retina....Pages 371-378
Quantitative Determination of Guanidino Compounds: The Excellent Preparation of Biological Samples....Pages 381-389
Recommended Deproteinizing Methods for Plasma Guanidino Compound Analysis by Liquid Chromatography....Pages 391-400
Evolutionary Relationships between Arginine and Creatine in Muscle....Pages 401-406
Metabolism of Arginine in Invertebrates : Relation to Urea Cycle and to Other Guanidine Derivatives....Pages 407-417
α-Guanidinoglutaric Acid and Epilepsy....Pages 419-426
Guanidino Compounds in Hyperargininemia....Pages 427-434
Guanidinosuccinic Acid and the Alternate Urea Cycle....Pages 435-441
Guanidinosuccinic Acid Excretion in Argininosuccinic Aciduria....Pages 443-448
Metabolic Pathway of Guanidino Compounds in Chronic Renal Failure....Pages 449-458
Guanidino Compounds and Hemodialysis....Pages 459-464
Effect of Guanidino Compounds on Hen Egg Development....Pages 465-470
Front Matter....Pages 471-471
α-Ketoglutarate Induced Transamination During Ischemic Exercise....Pages 473-478
Effect of Pyridoxine-2-Oxoglutarate Administration in Patients with Advanced Cirrhosis : Control of Ammonia Pyruvate and Lactate High Plasma Concentrations....Pages 479-485
Treatment of Pyruvic and Lactic Acidaemia in Ophthalmoplegia Plus....Pages 487-500
Front Matter....Pages 471-471
Intracerebral pH Regulation and Ammonia Detoxification....Pages 501-508
Concluding Remarks....Pages 509-511
Back Matter....Pages 513-528