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Introduction New Facets in Urea Cycle Disorders INTRODUCTION A. Lowenthal Laboratory of Neurochemistry, Born-Bunge Foundation, Universitaire Instelling Antwerpen, Wilrijk, Belgium This occasion is by no means the first meeting devoted to urea cycle diseases. It has been preceeded by meetings held in the Netherlands and in Spain. Accordingly the justification for a further meeting is not immediately evident. The reason for it is that the problems related to urea cycle diseases are developing fast, as instanced inter alia by I) the relation observed between hyperornithinemia and gyrate atrophy and the therapeutic acquisitions which result from it 2) the treatment of hyperammonemias. If the diagnosis of urea cycle disease is easily established by following standard principles and techniques, i.e. by means of amino acid analysis, with or without prior loading tests, by ammonemia measurement and by enzyme determination, also if these operations produce clear and precise conclusions in the matter of genetics and preventive medicine, yet many physiopathological questions remain unanswered and a number of therapeutic problems of these remain unsolved.
Contents
New Facets in Urea Cycle Disorders.- Newborn screening for urea cycle disorders.- A new method for screening of hyperammonemia.- Immobilization of multienzymes of urea cyle into fibrin membrane: an approach to an artificial liver.- N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.- Ornithine transcarbamylase (OTC) in white blood cells and jejunal mucosa.- Immunochemical assay in 16 boys with ornithine transcarbamylase deficiency.- Enzymatic analysis of citrullinemia (12 cases) in Japan.- Qualitative abnormality of liver argininosuccinate synthetase in a patient with citrullinemia.- Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.- First case of argininosuccinic aciduria in Japan: clinical observations and treatment.- Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.- Clinical and biochemical findings in argininemia.- Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.- Therapy of neonatal onset urea cycle enzymopathies (UCE).- to the Session on Secondary and Transient Hyperammonemia.- Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.- Neonatal isovaleric acidemia associated with hyperammonemia.- Hyperammonemia in the neonate with hypoxia.- A mechanism for valproate-induced hyperammonemia.- Reduced activity of OTC in the liver of patient with Reye's syndrome.- Spontaneous animal models of ornithine transcarbamylase deficiency studies on serum and urinary nitrogenous metabolites.- Sparse-fur mutation: a model for some human orni-thine transcarbamylase deficiencies.- Regulation of the N-acetylglutamate content of rat hepatocytes by the glutamateconcentration.- Enzyme regulation of N-acetylglutamate synthesis in mouse and rat liver.- Acute glucagon treatment in rats fed various protein diets. Effect on N-acetylglutamate concentration.- The relation between the developmental timing of birth and developmental increases in urea cycle enzymes.- Studies on the enzymes of urea cycle intermediates in normal and infarcted myocardial tissue of rat.- Effects of arginine-free meals on ureagenesis in cats.- Dynamism of rat liver ornithine metabolisms in relation to high-protein stimulation of the urea cycle.- Regulation of urea synthesis: changes in the concentration of ornithine in the liver corresponding to changes in urea synthesis.- Synthesis and intracellular transport of mitochondrial carbamylphosphate synthetase I and ornithine transcarbamylase.- Isolation of argininosuccinase from bovine brain: catalytic, physical and chemical properties compared to liver and kidney enzymes.- On the mechanism of the alterations of rat kidney transamidinase activities by diet and hormones.- Sciatectomic stimulation of muscle arginase and its implications.- Enzymes of arginine metabolism in the lizard, calotes versicolor.- Orotic acid in urine and hyperammonemia.- Comparison between amino acids and orotic acid analysis in the detection of urea cycle disorders in the Quebec urinary screening program.- Transient hyperammonemias in infants with and without organic academia.- Mechanism of hyperammonemia in an experimental model of propionic academia.- The study of organic acid metabolism in a patient with ornithine transcarbamylase (OTC) deficiency.- Hyperornithinemia, gyrate atrophy and ornithine keto-acid transaminase.- Gyrate atrophy of the choroid and retina (GA): toxic effects of ornithine and long-term therapy with an arginine-restricted diet.- Disease of ornithine-proline pathway: an ?'-pyrroline-5-carboxylate reductase deficiency in the retina of retinal degeneration mice.- Toxic effects of ornithine and its related compounds on the retina.- Quantitative determination of guanidino compounds: the excellent preparation of biological samples.- Recommended deproteinizing methods for plasma guanidino compounds analysis by liquid chromatography.- Evolutionary relationship between arginine and creatine in muscle.- Metabolism of arginine in invertebrates: relation to urea cycle and to other guanidine derivates.- a Guanidinoglutaric acid and epilepsy.- Guanidino compounds in hyperargininemia.- Guanidinosuccinic acid and the alternate urea cycle.- Guanidinosuccinic acid excretion in argininosuccinic aciduria.- Metabolic pathway of guanidino compounds in chronic renal failure.- Guanidino compounds and hemodialysis.- Effect of guanidino compounds on hen egg development.- a-ketoglutarate induced transamination during ischemic exercise.- Effect of pyridoxine-2-oxoglutarate administration in patients with advanced cirrhosis: control of ammonia pyruvate and lactate high plasma concentrations.- Treatment of pyruvic and lactic acidaemía in ophthalmoplegia plus.- Intracerebral pH regulation and ammonia detoxification.- Concluding Remarks.- Participants.
