Pyrimidine metabolism disorders are caused by enzyme defects in the metabolism of pyrimidine (WP4225). The clinical presentation of pyrimidine disorders is very diverse, because of the diversity in biological function. The severity of the disorder is determined by the severity of the defect and the function of the normal enzyme. The diagnosis of Pyrimidine metabolism disorders is based on altered concentrations of different metabolic biochemical markers. Some of these markers are metabolites in the pyrimidine metabolism, but there are also several other markers, that are either indirectly or not related to pyrimidine metabolism. All metabolic markers used for the diagnosis of at least one Pyrimidine metabolism disorder and their relations are visualized in this pathway. Biochemical markers derived from [IEMbase](http://www.iembase.org/), for all diseases pictured in WP4225. e8c e1e aka (R)-3-amino-2-methylpropanoate Zwitterion needed for conversion to take place (4-) charge needed for conversion to take place Orotidylic acid (3-) charge needed for conversion to take place (3-) charge needed for conversion to take place aka P5N1 Enzymes and reactions added with info from https://www.omim.org/entry/606224 aka 3-(carbamoylamino)propanoate (2-) charge needed for conversion to take place (2-) charge needed for conversion to take place (2-) charge needed for conversion to take place aka 3-(carbamoylamino)-2-methylpropanoate (1-) charge needed for conversion to take place (4-) charge needed for conversion to take place Zwitterion needed for conversion to take place (3-) charge needed for conversion to take place Zwitterion needed for conversion to take place aka NT5C Enzymes and reactions added with info from https://www.omim.org/entry/606224 aka P5N Enzymes and reactions added with info from https://www.omim.org/entry/606224 aka P5N1 Enzymes and reactions added with info from https://www.omim.org/entry/606224 aka NT5C Enzymes and reactions added with info from https://www.omim.org/entry/606224 aka P5N Enzymes and reactions added with info from https://www.omim.org/entry/606224 (3-) charge needed for conversion to take place (2-) charge needed for conversion to take place (2-) charge needed for conversion to take place ce8 Enzymes and reactions added with info from https://www.omim.org/entry/606224 a6d Enzymes and reactions added with info from https://www.omim.org/entry/606224 ef8 a02 UMPS (UMP synthase complex) is a complex consisting of orotate phosphoribosyltransferase (OPRT) and OMP decarboxylase (OMPDC) UMPS (UMP synthase complex) is a complex consisting of orotate phosphoribosyltransferase (OPRT) and OMP decarboxylase (OMPDC) Enzymes and reactions added with info from https://www.omim.org/entry/606224 Enzymes and reactions added with info from https://www.omim.org/entry/606224 pyrimidine metabolic disorder DOID:0050832 Disease orotic aciduria DOID:0050833 Disease dihydropyrimidine dehydrogenase deficiency pathway PW:0002210 Pathway Ontology inborn error purine-pyrimidine metabolism disease pathway PW:0001776 Pathway Ontology pyrimidine metabolic pathway PW:0000032 Pathway Ontology 16376858 PubMed Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits. Biochem Biophys Res Commun 2006 Qiu W Zhou B Darwish D Shao J Yen Y oroticaciduria 1 disease pathway PW:0001605 Pathway Ontology beta-ureidopropionase deficiency pathway PW:0001603 Pathway Ontology 9783642403361 ISBN Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases Chapter 41 ISBN:978-3-642-40337-8 2014 Blau, N. Duran, M. Gibson, K.M. Donisi-Vici, C dihydropyrimidine dehydrogenase deficiency DOID:14218 Disease 10893433 PubMed Creatine and creatinine metabolism. Physiol Rev 2000 Wyss M Kaddurah-Daouk R