Biomarkers for pyrimidine metabolism disorders (WP4584)

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, for all diseases pictured in WP4225.
last edited


IreneHemel, DeSl, and Finterly

Cited In


Homo sapiens



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

Disease Ontology: pyrimidine metabolic disorder orotic aciduria dihydropyrimidine dehydrogenase deficiency


Label Type Compact Identifier
(S)-Beta-aminoisobutyrate Metabolite chebi:57731
Orotate Metabolite chebi:30839
UTP Metabolite chebi:46398
UMPS GeneProduct uniprot:P11172
5-OH-Methyluracil Metabolite chebi:16964
Thymidine Metabolite chebi:17748
OMP Metabolite chebi:57538
Lactate Metabolite chebi:42111
Creatine kinase Protein uniprot:P12277
DPD Protein uniprot:Q12882
PUS1 Protein uniprot:Q9Y606
CDP Metabolite chebi:58069
Purine metabolism Pathway wikipathways:WP4224
Amino Acid metabolism Pathway wikipathways:WP3925
UMPH1 Protein uniprot:Q9H0P0
N-Carbamoyl-beta-alanine Metabolite chebi:11892
Uridine Metabolite chebi:16704
Creatine-P Metabolite chebi:58092
Dihydrouracil Metabolite chebi:15901
Cytidine Metabolite chebi:17562
Dihydrothymine Metabolite wikidata:Q3027885
Cytosine Metabolite chebi:16040
UMP Metabolite chebi:57865
TP Protein uniprot:P19971
Glutathione metabolism Pathway wikipathways:WP100
Uracil Metabolite chebi:17568
CMP Metabolite chebi:60377
Orotidine Metabolite chebi:25722
Pyrimidine metabolism Pathway wikipathways:WP4225
N-Carbamyl-beta-aminoisobutyric acid Metabolite chebi:74414
Cysteine Metabolite chebi:17561
CTP Metabolite chebi:37563
Beta-alanine Metabolite chebi:57966
PRPP Metabolite chebi:17111
UDP Metabolite chebi:58223
Thymine Metabolite chebi:17821
Uric acid Metabolite chebi:27226
Creatine Metabolite chebi:57947
2-Deoxyuridine Metabolite chebi:16450
Glutathione Metabolite chebi:16856
Pseudouridine Metabolite chebi:65314
+ PRPP Metabolite chebi:17111
UMPH2 Protein uniprot:Q8TCD5
UMPH Protein eccode:
UMPH1 Protein uniprot:Q9H0P0
UMPH2 Protein uniprot:Q8TCD5
UMPH Protein eccode:
UP Protein uniprot:Q9UBR1
DHP Protein uniprot:Q14117
TK2 Protein uniprot:O00142
TS Protein uniprot:P04818
dUDP Metabolite chebi:60471
dUMP Metabolite chebi:246422
dTMP Metabolite chebi:63528
RR Protein eccode:
RRM1 Protein uniprot:P23921
RRM2 Protein uniprot:P31350
RRM2B Protein uniprot:Q7LG56
OPRT Protein eccode:
OMPDC Protein eccode:
RRM1 Protein uniprot:P23921
Dihydroorotate Metabolite chebi:30864
DHODH Protein uniprot:Q02127


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