Biomarkers for pyrimidine metabolism disorders (WP4584)
Homo sapiens
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.
Authors
Irene Hemel , Denise Slenter , Finterly Hu , and Egon WillighagenActivity
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
orotic aciduria 1 pathway beta-ureidopropionase deficiency pathway inborn error of purine-pyrimidine metabolism pathway dihydropyrimidine dehydrogenase deficiency pathway pyrimidine metabolic pathwayDisease Ontology
pyrimidine metabolic disorder orotic aciduria dihydropyrimidine dehydrogenase deficiency| Label | Type | Compact URI | Comment |
|---|---|---|---|
| (S)-Beta-aminoisobutyrate | Metabolite | chebi:57731 | aka (R)-3-amino-2-methylpropanoateZwitterion needed for conversion to take place |
| Orotate | Metabolite | chebi:30839 | |
| UTP | Metabolite | chebi:46398 | (4-) charge needed for conversion to take place |
| 5-OH-Methyluracil | Metabolite | chebi:16964 | |
| Thymidine | Metabolite | chebi:17748 | |
| OMP | Metabolite | chebi:57538 | Orotidylic acid(3-) charge needed for conversion to take place |
| Lactate | Metabolite | chebi:42111 | |
| CDP | Metabolite | chebi:58069 | (3-) charge needed for conversion to take place |
| N-Carbamoyl-beta-alanine | Metabolite | chebi:11892 | aka 3-(carbamoylamino)propanoate |
| Uridine | Metabolite | chebi:16704 | |
| Creatine-P | Metabolite | chebi:58092 | (2-) charge needed for conversion to take place |
| Dihydrouracil | Metabolite | chebi:15901 | |
| Cytidine | Metabolite | chebi:17562 | |
| Dihydrothymine | Metabolite | wikidata:Q3027885 | |
| Cytosine | Metabolite | chebi:16040 | |
| UMP | Metabolite | chebi:57865 | (2-) charge needed for conversion to take place |
| Uracil | Metabolite | chebi:17568 | |
| CMP | Metabolite | chebi:60377 | (2-) charge needed for conversion to take place |
| Orotidine | Metabolite | chebi:25722 | |
| N-Carbamyl-beta-aminoisobutyric acid | Metabolite | chebi:74414 | aka 3-(carbamoylamino)-2-methylpropanoate(1-) charge needed for conversion to take place |
| Cysteine | Metabolite | chebi:17561 | |
| CTP | Metabolite | chebi:37563 | (4-) charge needed for conversion to take place |
| Beta-alanine | Metabolite | chebi:57966 | Zwitterion needed for conversion to take place |
| PRPP | Metabolite | chebi:17111 | |
| UDP | Metabolite | chebi:58223 | (3-) charge needed for conversion to take place |
| Thymine | Metabolite | chebi:17821 | |
| Uric acid | Metabolite | chebi:27226 | |
| Creatine | Metabolite | chebi:57947 | Zwitterion needed for conversion to take place |
| 2-Deoxyuridine | Metabolite | chebi:16450 | |
| Glutathione | Metabolite | chebi:16856 | |
| Pseudouridine | Metabolite | chebi:65314 | |
| + PRPP | Metabolite | chebi:17111 | |
| dUDP | Metabolite | chebi:60471 | (3-) charge needed for conversion to take place |
| dUMP | Metabolite | chebi:246422 | (2-) charge needed for conversion to take place |
| dTMP | Metabolite | chebi:63528 | (2-) charge needed for conversion to take place |
| Dihydroorotate | Metabolite | chebi:30864 | |
| UMPS | GeneProduct | uniprot:P11172 | |
| Creatine kinase | Protein | uniprot:P12277 | |
| DPD | Protein | uniprot:Q12882 | |
| PUS1 | Protein | uniprot:Q9Y606 | |
| UMPH1 | Protein | uniprot:Q9H0P0 | aka P5N1Enzymes and reactions added with info from https://www.omim.org/entry/606224 |
| TP | Protein | uniprot:P19971 | |
| UMPH2 | Protein | uniprot:Q8TCD5 | aka NT5CEnzymes and reactions added with info from https://www.omim.org/entry/606224 |
| UMPH | Protein | eccode:3.1.3.5 | aka P5NEnzymes and reactions added with info from https://www.omim.org/entry/606224 |
| UP | Protein | uniprot:Q9UBR1 | |
| DHP | Protein | uniprot:Q14117 | |
| TK2 | Protein | uniprot:O00142 | |
| TS | Protein | uniprot:P04818 | |
| RR | Protein | eccode:1.17.4.1 | |
| RRM1 | Protein | uniprot:P23921 | |
| RRM2 | Protein | uniprot:P31350 | |
| RRM2B | Protein | uniprot:Q7LG56 | |
| OPRT | Protein | eccode:2.4.2.10 | |
| OMPDC | Protein | eccode:4.1.1.23 | |
| DHODH | Protein | uniprot:Q02127 |
References
- 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
- Creatine and creatinine metabolism. Wyss M, Kaddurah-Daouk R. Physiol Rev. 2000 Jul;80(3):1107–213. PubMed Europe PMC Scholia
- 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