PMID: 9445373Mar 7, 1998Paper

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man

The Biochemical Journal
R CurtoM Cascante

Abstract

A modelling approach is used to analyse diseases associated with purine metabolism in man. The specific focus is on deficiencies in two enzymes, hypoxanthine:guanine phosphoribosyltransferase and adenylosuccinate lyase. These deficiencies can lead to a number of symptoms, including neurological dysfunctions and mental retardation. Although the biochemical mechanisms of dysfunctions associated with adenylosuccinate lyase deficiency are not completely understood, there is at least general agreement in the literature about possible causes. Simulations with our model confirm that accumulation of the two substrates of the enzyme can lead to significant biochemical imbalance. In hypoxanthine:guanine phosphoribosyltransferase deficiency the biochemical mechanisms associated with neurological dysfunctions are less clear. Model analyses support some old hypotheses but also suggest new indicators for possible causes of neurological dysfunctions associated with this deficiency. Hypoxanthine:guanine phosphoribosyltransferase deficiency is known to cause hyperuricaemia and gout. We compare the relative importance of this deficiency with other known causes of gout in humans. The analysis suggests that defects in the excretion of uric acid ar...Continue Reading

Citations

Jun 13, 2015·Journal of Inherited Metabolic Disease·David J SchretlenH A Jinnah
Dec 4, 2008·The FEBS Journal·Daniela VannoniEnrico Marinello
Jun 12, 2001·Medical Hypotheses·B Kirschbaum
Apr 5, 2013·PloS One·Guido Santos, Néstor V Torres
Sep 15, 2006·Journal of Child Neurology·Patrizia SaccucciPaolo Curatolo
Mar 4, 2000·Biotechnology and Bioengineering·P de AtauriM Cascante
Jul 9, 2016·IEEE/ACM Transactions on Computational Biology and Bioinformatics·Zhen Qi, Eberhard O Voit
Jan 1, 2008·Biotechnology & Genetic Engineering Reviews·Rui AlvesAlbert Sorribas
Jan 24, 2017·Molecular BioSystems·Zhen Qi, Eberhard O Voit
Dec 14, 2011·The Journal of Biological Chemistry·Rong Fu, H A Jinnah
Apr 13, 2019·Current Opinion in Biotechnology·Jacob D DavisEberhard O Voit
Apr 13, 2000·Brain Research. Brain Research Reviews·J E VisserH A Jinnah
Jun 6, 2002·Drug Discovery Today·Eberhard O Voit
Jun 28, 2011·BMC Systems Biology·Zhenping LiXiang-Sun Zhang

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