Overview of purine metabolism and related diseases. Disorders resulting from an enzyme defect are highlighted in pink, metabolic markers are highlighted in red. Arrows indicate the directionality of chemical conversions. On the right, the biosynthesis of IMP is depicted in more detail (adapted from: https://en.wikipedia.org/wiki/Purine_metabolism). The color scheme for this part of the pathway is as follows: enzymes(black), coenzymes(light orange), regular substrates/metabolites(blue), additional substrates(dark green), metal ions(turquoise), inorganic molecules(light purple). This pathway was inspired by Ed. 5, Chapter 13 from the book of Blau (Ed. 4 Chapter 41) (ISBN 9783030677268). A similar version without the disorders and with biomarkers visualised with arrows can be found [https://www.wikipathways.org/instance/WP4792 here]. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP4224 CPTAC Assay Portal]

Authors

Roel Hacking , Egon Willighagen , Denise Slenter , Martina Summer-Kutmon , Daniela Digles , Irene Hemel , Josien Landman , Kristina Hanspers , Finterly Hu , and Friederike Ehrhart

Cited In

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Organism

Homo sapiens

Communities

Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Disease Ontology: Lesch-Nyhan syndrome adenylosuccinase lyase deficiency adenosine deaminase deficiency mitochondrial DNA depletion syndrome 3 adenine phosphoribosyltransferase deficiency

Pathway Ontology: inborn error of purine-pyrimidine metabolism pathway purine nucleoside phosphorylase deficiency pathway adenosine monophosphate deaminase deficiency pathway Lesch-Nyhan syndrome pathway disease pathway purine metabolic pathway xanthinuria type II pathway

Participants

References

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2. The molybdenum cofactor. Mendel RR. J Biol Chem. 2013 May 10;288(19):13165–72. PubMed Europe PMC Scholia
3. Species-Specific Involvement of Aldehyde Oxidase and Xanthine Oxidase in the Metabolism of the Pyrimidine-Containing mGlu5-Negative Allosteric Modulator VU0424238 (Auglurant). Crouch RD, Blobaum AL, Felts AS, Conn PJ, Lindsley CW. Drug Metab Dispos. 2017 Dec;45(12):1245–59. PubMed Europe PMC Scholia