Pyrimidine metabolism and related diseases (WP4225)

Homo sapiens

Authors

Roel Hacking , Denise Slenter , Egon Willighagen , Martina Summer-Kutmon , Irene Hemel , Friederike Ehrhart , Finterly Hu , and Eric Weitz

Activity

Discuss this pathway

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Cited In

• Heterogeneity of Lipid and Protein Cartilage Profiles Associated with Human Osteoarthritis with or without Type 2 Diabetes Mellitus (2021).
• Identification of high‐dimensional omics‐derived predictors for tumor growth dynamics using machine learning and pharmacometric modeling (2021).

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Organisms

Homo sapiens

Communities

Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Disease Ontology

pyrimidine metabolic disorder dihydropyrimidine dehydrogenase deficiency orotic aciduria

Pathway Ontology

dihydropyrimidine dehydrogenase deficiency pathway beta-ureidopropionase deficiency pathway orotic aciduria 1 pathway pyrimidine metabolic pathway inborn error of purine-pyrimidine metabolism pathway disease pathway

References

1. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
2. Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen’s syndrome. Higgins JJ, Kaneski CR, Bernardini I, Brady RO, Barton NW. Neurology. 1994 Sep;44(9):1728–32. PubMed Europe PMC Scholia
3. Mammalian methylmalonate-semialdehyde dehydrogenase. Kedishvili NY, Goodwin GW, Popov KM, Harris RA. Methods Enzymol. 2000;324:207–18. PubMed Europe PMC Scholia
4. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. van Kuilenburg ABP. Eur J Cancer. 2004 May;40(7):939–50. PubMed Europe PMC Scholia
5. Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits. Qiu W, Zhou B, Darwish D, Shao J, Yen Y. Biochem Biophys Res Commun. 2006 Feb 10;340(2):428–34. PubMed Europe PMC Scholia
6. Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg ABP, et al. Neuropediatrics. 2006 Feb;37(1):20–5. PubMed Europe PMC Scholia
7. Inborn errors of pyrimidine metabolism: clinical update and therapy. Balasubramaniam S, Duley JA, Christodoulou J. J Inherit Metab Dis. 2014 Sep;37(5):687–98. PubMed Europe PMC Scholia
8. Beta-Aminoisobutyric Acid as a Novel Regulator of Carbohydrate and Lipid Metabolism. Tanianskii DA, Jarzebska N, Birkenfeld AL, O’Sullivan JF, Rodionov RN. Nutrients. 2019 Feb 28;11(3):524. PubMed Europe PMC Scholia
9. Mevalonate Pathway Provides Ubiquinone to Maintain Pyrimidine Synthesis and Survival in p53-Deficient Cancer Cells Exposed to Metabolic Stress. Kaymak I, Maier CR, Schmitz W, Campbell AD, Dankworth B, Ade CP, et al. Cancer Res. 2020 Jan 15;80(2):189–203. PubMed Europe PMC Scholia