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 http://www.iembase.org/, for all diseases pictured in WP4225.e1eaka (R)-3-amino-2-methylpropanoateZwitterion needed for conversion to take place(4-) charge needed for conversion to take placeOrotidylic acid(3-) charge needed for conversion to take place(3-) charge needed for conversion to take placeaka P5N1Enzymes and reactions added with info from https://www.omim.org/entry/606224aka 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 placeaka 3-(carbamoylamino)-2-methylpropanoate(1-) charge needed for conversion to take place(4-) charge needed for conversion to take placeZwitterion needed for conversion to take place(3-) charge needed for conversion to take placeZwitterion needed for conversion to take placeaka NT5CEnzymes and reactions added with info from https://www.omim.org/entry/606224aka P5NEnzymes and reactions added with info from https://www.omim.org/entry/606224aka P5N1Enzymes and reactions added with info from https://www.omim.org/entry/606224aka NT5CEnzymes and reactions added with info from https://www.omim.org/entry/606224aka P5NEnzymes 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 placece8Enzymes and reactions added with info from https://www.omim.org/entry/606224a6dEnzymes and reactions added with info from https://www.omim.org/entry/606224Enzymes and reactions added with info from https://www.omim.org/entry/606224Enzymes and reactions added with info from https://www.omim.org/entry/606224oroticaciduria 1 disease pathwayPW:0001605Pathway Ontologybeta-ureidopropionase deficiency pathwayPW:0001603Pathway Ontologypyrimidine metabolic disorderDOID:0050832Human Disease Ontologyinborn error purine-pyrimidine metabolism disease pathwayPW:0001776Pathway Ontologyorotic aciduriaDOID:0050833Human Disease Ontologydihydropyrimidine dehydrogenase deficiency pathwayPW:0002210Pathway Ontologypyrimidine metabolic pathwayPW:0000032Pathway Ontologydihydropyrimidine dehydrogenase deficiencyDOID:14218Human Disease Ontology9783642403361ISBNPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases Chapter 41ISBN:978-3-642-40337-82014Blau, N.Duran, M.Gibson, K.M.Donisi-Vici, C16376858PubMedCharacterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits.Biochem Biophys Res Commun2006Qiu WZhou BDarwish DShao JYen Y10893433PubMedCreatine and creatinine metabolism.Physiol Rev2000Wyss MKaddurah-Daouk R