Purine Nucleoside Phosphorylase Deficiency

Metabolites

10-Formyltetrahydrofolate

Formula: C20H23N7O7 (473.1658888)

CAS ID: 2800-34-2

2-Deoxy-D-ribose 1-phosphate

Formula: C5H11O7P (214.0242386)

CAS ID: 17210-42-3

3',5'-Cyclic AMP

Formula: C10H12N5O6P (329.0525182)

CAS ID: 60-92-4

5'-Phosphoribosylglycinamide

Formula: C7H15N2O8P (286.0566)

CAS ID: 10074-18-7

Adenine

Formula: C5H5N5 (135.054493)

CAS ID: 73-24-5

Adenosine

Formula: C10H13N5O4 (267.09674980000005)

CAS ID: 58-61-7

ADP

Formula: C10H15N5O10P2 (427.02941500000003)

CAS ID: 58-64-0

ADP-ribose

Formula: C15H23N5O14P2 (559.0716718)

CAS ID: 20762-30-5

alpha-D-Ribose 1-phosphate

Formula: C5H11O8P (230.0191536)

CAS ID: 14075-00-4

Aminoimidazole ribotide

Formula: C8H14N3O7P (295.0569344)

CAS ID: 25635-88-5

Ammonia

Formula: NH3 (17.0265478)

CAS ID: 7664-41-7

AMP

Formula: C10H14N5O7P (347.06308240000004)

CAS ID: 61-19-8

ATP

Formula: C10H16N5O13P3 (506.9957476)

CAS ID: 56-65-5

CO2

Formula: CO2 (43.98983)

CAS ID: 124-38-9

D-Ribose 5-phosphate

Formula: C5H11O8P (230.0191536)

CAS ID: 4300-28-1

dAMP

Formula: C10H14N5O6P (331.06816740000005)

CAS ID: 653-63-4

dATP

Formula: C10H16N5O12P3 (491.0008326)

CAS ID: 1927-31-7

Deoxyadenosine

Formula: C10H13N5O3 (251.10183480000003)

CAS ID: 958-09-8

Deoxyguanosine

Formula: C10H13N5O4 (267.09674980000005)

CAS ID: 961-07-9

Deoxyinosine

Formula: C10H12N4O4 (252.08585119999998)

CAS ID: 890-38-0

dGDP

Formula: C10H15N5O10P2 (427.02941500000003)

CAS ID: 3493-09-2

dGMP

Formula: C10H14N5O7P (347.06308240000004)

CAS ID: 902-04-5

dGTP

Formula: C10H16N5O13P3 (506.9957476)

CAS ID: 2564-35-4

GDP

Formula: C10H15N5O11P2 (443.02433)

CAS ID: 146-91-8

GMP

Formula: C10H14N5O8P (363.05799740000003)

CAS ID: 85-32-5

GTP

Formula: C10H16N5O14P3 (522.9906626)

CAS ID: 86-01-1

Guanine

Formula: C5H5N5O (151.049408)

CAS ID: 73-40-5

Guanosine

Formula: C10H13N5O5 (283.09166480000005)

CAS ID: 118-00-3

H2O

Formula: H2O (18.0105642)

CAS ID: 7732-18-5

Hydrogen peroxide

Formula: H2O2 (34.0054792)

CAS ID: 7722-84-1

Hypoxanthine

Formula: C5H4N4O (136.03850939999998)

CAS ID: 68-94-0

IDP

Formula: C10H14N4O11P2 (428.0134314)

CAS ID: 86-04-4

IMP

Formula: C10H13N4O8P (348.0470988)

CAS ID: 131-99-7

Inosine

Formula: C10H12N4O5 (268.08076619999997)

CAS ID: 58-63-9

ITP

Formula: C10H15N4O14P3 (507.979764)

CAS ID: 132-06-9

L-Glutamate

Formula: C5H9NO4 (147.0531554)

CAS ID: 56-86-0

L-Glutamine

Formula: C5H10N2O3 (146.069139)

CAS ID: 56-85-9

NAD+

Formula: C21H28N7O14P2 (664.1169428000001)

CAS ID: 53-84-9

NADH

Formula: C21H29N7O14P2 (665.1247674)

CAS ID: 58-68-4

NADP+

Formula: C21H29N7O17P3 (744.0832754)

CAS ID: 53-59-8

Orthophosphate

Formula: H3PO4 (97.9768968)

CAS ID: 7664-38-2

Oxygen

Formula: O2 (31.98983)

CAS ID: 7782-44-7

Urate

Formula: C5H4N4O3 (168.0283394)

CAS ID: 69-93-2

Xanthine

Formula: C5H4N4O2 (152.0334244)

CAS ID: 69-89-6

Xanthosine

Formula: C10H12N4O6 (284.07568119999996)

CAS ID: 146-80-5

Xanthosine 5'-phosphate

Formula: C10H13N4O9P (364.0420138)

CAS ID: 523-98-8

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
2.7.-.-
1.17.1.4 xanthine dehydrogenase xanthine:NAD+ oxidoreductase
1.17.3.2 xanthine oxidase xanthine:oxygen oxidoreductase
1.17.4.1 ribonucleoside-diphosphate reductase 2'-deoxyribonucleoside-5'-diphosphate:thioredoxin-disulfide 2'-oxidoreductase
2.1.2.2 phosphoribosylglycinamide formyltransferase 1 10-formyltetrahydrofolate:5'-phosphoribosylglycinamide N-formyltransferase
2.1.2.3 phosphoribosylaminoimidazolecarboxamide formyltransferase 10-formyltetrahydrofolate:5'-phosphoribosyl-5-amino-4-imidazole-carboxamide N-formyltransferase
2.4.2.14 amidophosphoribosyltransferase 5-phospho-beta-D-ribosylamine:diphosphate phospho-alpha-D-ribosyltransferase (glutamate-amidating)
3.1.4.35 3',5'-cyclic-GMP phosphodiesterase 3',5'-cyclic-GMP 5'-nucleotidohydrolase
3.1.4.53 3',5'-cyclic-AMP phosphodiesterase 3',5'-cyclic-AMP 5'-nucleotidohydrolase
3.5.4.10 IMP cyclohydrolase IMP 1,2-hydrolase (decyclizing)
4.1.1.21 phosphoribosylaminoimidazole carboxylase 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate carboxy-lyase [5-amino-1-(5-phospho-D-ribosyl)imidazole-forming]
4.3.2.2 adenylosuccinate lyase N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming)
6.3.2.6 phosphoribosylaminoimidazolesuccinocarboxamide synthase 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxylate:L-aspartate ligase (ADP-forming)
6.3.3.1 phosphoribosylformylglycinamidine cyclo-ligase 2-(Formamido)-N1-(5-phosphoribosyl)acetamidine cyclo-ligase (ADP-forming)
6.3.4.13 phosphoribosylamine-glycine ligase 5-phospho-D-ribosylamine:glycine ligase (ADP-forming)
6.3.4.4 adenylosuccinate synthase IMP:L-aspartate ligase (GDP-forming)
6.3.5.2 GMP synthase (glutamine-hydrolysing) xanthosine-5'-phosphate:L-glutamine amido-ligase (AMP-forming)
6.3.5.3 phosphoribosylformylglycinamidine synthase N2-formyl-N1-(5-phospho-D-ribosyl)glycinamide:L-glutamine amido-ligase (ADP-forming)


Proteins

Protein ID name full name