UMP Synthase Deficiency (Orotic Aciduria)

Metabolites

2-Deoxy-D-ribose 1-phosphate

Formula: C5H11O7P (214.0242386)

CAS ID: 17210-42-3

3-Aminoisobutyric acid

Formula: C4H9NO2 (103.0633254)

CAS ID: 144-90-1

3-Ureidopropionate

Formula: C4H8N2O3 (132.05348980000002)

CAS ID: 462-88-4

3'-AMP

Formula: C10H14N5O7P (347.06308240000004)

CAS ID: 84-21-9

5,6-Dihydrouracil

Formula: C4H6N2O2 (114.04292559999999)

CAS ID: 504-07-4

ADP

Formula: C10H15N5O10P2 (427.02941500000003)

CAS ID: 58-64-0

alpha-D-Ribose 1-phosphate

Formula: C5H11O8P (230.0191536)

CAS ID: 14075-00-4

Ammonia

Formula: NH3 (17.0265478)

CAS ID: 7664-41-7

ATP

Formula: C10H16N5O13P3 (506.9957476)

CAS ID: 56-65-5

beta-Alanine

Formula: C3H7NO2 (89.0476762)

CAS ID: 107-95-9

Carbamoyl phosphate

Formula: CH4NO5P (140.9827104)

CAS ID: 590-55-6

CDP

Formula: C9H15N3O11P2 (403.01818199999997)

CAS ID: 63-38-7

CMP

Formula: C9H14N3O8P (323.05184940000004)

CAS ID: 63-37-6

CO2

Formula: CO2 (43.98983)

CAS ID: 124-38-9

CTP

Formula: C9H16N3O14P3 (482.9845146)

CAS ID: 65-47-4

Cytidine

Formula: C9H13N3O5 (243.0855168)

CAS ID: 65-46-3

dCDP

Formula: C9H15N3O10P2 (387.023267)

CAS ID: 800-73-7

dCMP

Formula: C9H14N3O7P (307.0569344)

CAS ID: 1032-65-1

dCTP

Formula: C9H16N3O13P3 (466.9895996)

CAS ID: 2056-98-6

Deoxycytidine

Formula: C9H13N3O4 (227.0906018)

CAS ID: 951-77-9

Deoxyuridine

Formula: C9H12N2O5 (228.07461819999997)

CAS ID: 951-78-0

Dihydrofolate

Formula: C19H21N7O6 (443.15532460000003)

CAS ID: 4033-27-6

dTDP

Formula: C10H16N2O11P2 (402.02293259999993)

CAS ID: 491-97-4

dTMP

Formula: C10H15N2O8P (322.0566)

CAS ID: 365-07-1

dTTP

Formula: C10H17N2O14P3 (481.9892652)

CAS ID: 365-08-2

dUDP

Formula: C9H14N2O11P2 (388.00728339999995)

CAS ID: 4208-67-7

dUMP

Formula: C9H13N2O8P (308.0409508)

CAS ID: 964-26-1

dUTP

Formula: C9H15N2O14P3 (467.973616)

CAS ID: 1173-82-6

H2O

Formula: H2O (18.0105642)

CAS ID: 7732-18-5

HCO3-

Formula: HCO3 (60.9925696)

CAS ID: 71-52-3

Hydroquinone

Formula: C6H6O2 (110.0367776)

CAS ID: 123-31-9

L-Glutamine

Formula: C5H10N2O3 (146.069139)

CAS ID: 56-85-9

N-Carbamoyl-L-aspartate

Formula: C5H8N2O5 (176.0433198)

CAS ID: 13184-27-5

NADP+

Formula: C21H29N7O17P3 (744.0832754)

CAS ID: 53-59-8

Orotate

Formula: C5H4N2O4 (156.0171064)

CAS ID: 65-86-1

Orthophosphate

Formula: H3PO4 (97.9768968)

CAS ID: 7664-38-2

p-Benzoquinone

Formula: C6H4O2 (108.0211284)

CAS ID: 106-51-4

Thymidine

Formula: C10H14N2O5 (242.09026740000002)

CAS ID: 50-89-5

Thymine

Formula: C5H6N2O2 (126.04292559999999)

CAS ID: 65-71-4

UDP

Formula: C9H14N2O12P2 (404.0021984)

CAS ID: 58-98-0

UMP

Formula: C9H13N2O9P (324.03586580000007)

CAS ID: 58-97-9

Uracil

Formula: C4H4N2O2 (112.02727639999999)

CAS ID: 66-22-8

Uridine

Formula: C9H12N2O6 (244.0695332)

CAS ID: 58-96-8

UTP

Formula: C9H15N2O15P3 (483.968531)

CAS ID: 63-39-8

diphosphate

Formula: O7P2 (173.911931)

CAS ID: 14000-31-8

phosphate(3-)

Formula: O4P (94.953423)

CAS ID: 14265-44-2



Enzyme

EC Number name full name note
1.17.4.1 ribonucleoside-diphosphate reductase 2'-deoxyribonucleoside-5'-diphosphate:thioredoxin-disulfide 2'-oxidoreductase
1.3.1.2 dihydropyrimidine dehydrogenase (NADP+) 5,6-dihydrouracil:NADP+ 5-oxidoreductase
1.3.5.2 dihydroorotate dehydrogenase (quinone) (S)-dihydroorotate:quinone oxidoreductase
2.4.2.4 thymidine phosphorylase thymidine:phosphate deoxy-alpha-D-ribosyltransferase
2.7.4.10 nucleoside-triphosphate-adenylate kinase nucleoside-triphosphate:AMP phosphotransferase
2.7.4.6 nucleoside-diphosphate kinase ATP:nucleoside-diphosphate phosphotransferase
3.5.1.6 beta-ureidopropionase N-carbamoyl-beta-alanine amidohydrolase
3.5.4.12 dCMP deaminase dCMP aminohydrolase
3.5.4.3 guanine deaminase guanine aminohydrolase
3.6.1.23 dUTP diphosphatase dUTP nucleotidohydrolase
3.6.1.66 XTP/dITP diphosphatase XTP/dITP diphosphohydrolase (diphosphate-forming)
6.3.4.16 carbamoyl-phosphate synthase (ammonia) carbon-dioxide:ammonia ligase (ADP-forming, carbamate-phosphorylating)


Proteins

Protein ID name full name