Record Information |
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Version | 5.0 |
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Status | Detected and Quantified |
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Creation Date | 2005-11-16 15:48:42 UTC |
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Update Date | 2023-05-30 20:56:04 UTC |
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HMDB ID | HMDB0000289 |
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Secondary Accession Numbers | |
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Metabolite Identification |
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Common Name | Uric acid |
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Description | Uric acid is a heterocyclic purine derivative that is the final oxidation product of purine metabolism. It is a weak acid distributed throughout the extracellular fluid as sodium urate. Uric acid is produced by the enzyme xanthine oxidase, which oxidizes oxypurines such as xanthine into uric acid. In most mammals, except humans and higher primates, the enzyme uricase further oxidizes uric acid to allantoin. Interestingly, during the Miocene epoch (~15-20 million years ago), two distinct mutations in the primate genome occurred that led to a nonfunctioning uricase gene. Consequently, humans, apes, and certain New World monkeys have much higher uric acid levels (>120 μM) compared with other mammals (<<120 uM). The loss of uricase in higher primates parallels the similar loss of the ability to synthesize ascorbic acid vitamin C. This may be because in higher primates uric acid partially replaces ascorbic acid. Like ascorbic acid, uric acid is an antioxidant. In fact, in primates, uric acid is the major antioxidant in serum and is thought to be a major factor in lengthening life-span and decreasing age-specific cancer rates in humans and other primates (PMID: 6947260 ). Uric acid is also the end product of nitrogen metabolism in birds and reptiles. In these animal species, it is excreted in feces as a dry mass. In humans and other mammals, the amount of urate in the blood depends on the dietary intake of purines, the level of endogenous urate biosynthesis, and the rate of urate excretion. Several kidney urate transporters are involved in the regulation of plasma urate levels. These include the urate transporter 1 (URAT1), which controls the reabsorption of urate as well as a number of organic ion transporters (OAT), such as OAT1 and OAT3, and the ATP-dependent urate export transporter MRP4. URAT1 is believed to be most critical in the regulation of plasma urate levels. (PMID: 17890445 ) High levels of plasma uric acid lead to a condition called hyperuricemia while low levels are associated with a condition called hypouricemia. Hyperuricemia has been defined as a uric acid concentration greater than 380 μM, while hypouricemia is generally defined as a urate concentration of less than 120 μM. Hyperuricemia can arise from a number of factors, including both acute and chronic causes. Acute causes of hyperuricemia include the intake of large amounts of alcohol, tumor lysis syndrome and a diet that is rich in purines or proteins. Chronic hyperuricemia can arise from a reduction in the kidney’s glomerular filtration rate, a decrease in the excretion of urate or an increase in overall tubular absorption in the kidneys. Hyperuricemia has been linked to a number of diseases and conditions, including gout, hypertension, cardiovascular disease, myocardial infarction, stroke, and renal disease. Uric acid has been identified as a uremic toxin according to the European Uremic Toxin Working Group (PMID: 22626821 ). Many of the causes of hyperuricemia are correctable either with lifestyle changes or drugs. Lifestyle changes include reducing weight and reducing the consumption of protein, purines, and alcohol. There are two kinds of drugs that can be used to treat chronic hyperuricemia. Xanthine oxidase inhibitors, such as allopurinol, inhibit the production of urate by blocking urate synthesis. Alternately, uricosuric drugs, such as probenecid, sulfinpyrazone, and benzpromarone, are used to reduce the serum urate concentration through the inhibition of the URAT1 transporter. (PMID: 17890445 ). Uric acid (especially crystalline uric acid) is also thought to be an essential initiator and amplifier of allergic inflammation for asthma and peanut allergies (PMID: 21474346 ). |
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Structure | O=C1NC2=C(N1)C(=O)NC(=O)N2 InChI=1S/C5H4N4O3/c10-3-1-2(7-4(11)6-1)8-5(12)9-3/h(H4,6,7,8,9,10,11,12) |
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Synonyms | Value | Source |
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2,6,8-Trioxopurine | ChEBI | 2,6,8-Trioxypurine | ChEBI | Purine-2,6,8(1H,3H,9H)-trione | ChEBI | Urate | ChEBI | 1H-Purine-2,6,8-triol | HMDB | 2,6,8-Trihydroxypurine | HMDB | Lithate | HMDB | Lithic acid | HMDB | Acid urate, ammonium | HMDB | Ammonium acid urate | HMDB | Monohydrate, sodium urate | HMDB | Urate, ammonium acid | HMDB | Urate, monosodium | HMDB | Acid, uric | HMDB | Monosodium urate monohydrate | HMDB | Sodium acid urate | HMDB | Sodium urate | HMDB | Trioxopurine | HMDB | Urate, sodium acid | HMDB | Monohydrate, monosodium urate | HMDB | Monosodium urate | HMDB | Potassium urate | HMDB | Sodium acid urate monohydrate | HMDB | Urate monohydrate, sodium | HMDB | Acid urate, sodium | HMDB | Sodium urate monohydrate | HMDB | Urate monohydrate, monosodium | HMDB | Urate, potassium | HMDB | Urate, sodium | HMDB |
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Chemical Formula | C5H4N4O3 |
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Average Molecular Weight | 168.1103 |
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Monoisotopic Molecular Weight | 168.028340014 |
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IUPAC Name | 2,3,6,7,8,9-hexahydro-1H-purine-2,6,8-trione |
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Traditional Name | uric acid |
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CAS Registry Number | 69-93-2 |
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SMILES | O=C1NC2=C(N1)C(=O)NC(=O)N2 |
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InChI Identifier | InChI=1S/C5H4N4O3/c10-3-1-2(7-4(11)6-1)8-5(12)9-3/h(H4,6,7,8,9,10,11,12) |
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InChI Key | LEHOTFFKMJEONL-UHFFFAOYSA-N |
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Chemical Taxonomy |
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Description | Belongs to the class of organic compounds known as xanthines. These are purine derivatives with a ketone group conjugated at carbons 2 and 6 of the purine moiety. |
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Kingdom | Organic compounds |
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Super Class | Organoheterocyclic compounds |
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Class | Imidazopyrimidines |
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Sub Class | Purines and purine derivatives |
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Direct Parent | Xanthines |
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Alternative Parents | |
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Substituents | - Xanthine
- 6-oxopurine
- Purinone
- Alkaloid or derivatives
- Pyrimidone
- Pyrimidine
- Azole
- Imidazole
- Heteroaromatic compound
- Vinylogous amide
- Lactam
- Urea
- Azacycle
- Hydrocarbon derivative
- Organic oxide
- Organooxygen compound
- Organonitrogen compound
- Organic nitrogen compound
- Organopnictogen compound
- Organic oxygen compound
- Aromatic heteropolycyclic compound
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Molecular Framework | Aromatic heteropolycyclic compounds |
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External Descriptors | |
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Ontology |
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Physiological effect | |
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Disposition | |
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Process | |
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Role | |
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Physical Properties |
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State | Solid |
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Experimental Molecular Properties | Property | Value | Reference |
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Melting Point | > 300 °C | Not Available | Boiling Point | Not Available | Not Available | Water Solubility | 0.06 mg/mL | Not Available | LogP | -2.17 | NAHUM,A & HORVATH,C (1980) |
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Experimental Chromatographic Properties | Experimental Collision Cross Sections |
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Predicted Molecular Properties | |
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Predicted Chromatographic Properties | Predicted Collision Cross SectionsPredicted Kovats Retention IndicesUnderivatizedDerivatizedDerivative Name / Structure | SMILES | Kovats RI Value | Column Type | Reference |
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Uric acid,1TMS,isomer #1 | C[Si](C)(C)N1C(=O)[NH]C2=C1[NH]C(=O)[NH]C2=O | 1987.5 | Semi standard non polar | 33892256 | Uric acid,1TMS,isomer #1 | C[Si](C)(C)N1C(=O)[NH]C2=C1[NH]C(=O)[NH]C2=O | 2135.0 | Standard non polar | 33892256 | Uric acid,1TMS,isomer #1 | C[Si](C)(C)N1C(=O)[NH]C2=C1[NH]C(=O)[NH]C2=O | 3194.8 | Standard polar | 33892256 | Uric acid,1TMS,isomer #2 | C[Si](C)(C)N1C(=O)[NH]C2=C1C(=O)[NH]C(=O)[NH]2 | 2025.0 | Semi standard non polar | 33892256 | Uric acid,1TMS,isomer #2 | C[Si](C)(C)N1C(=O)[NH]C2=C1C(=O)[NH]C(=O)[NH]2 | 2123.5 | Standard non polar | 33892256 | Uric acid,1TMS,isomer #2 | C[Si](C)(C)N1C(=O)[NH]C2=C1C(=O)[NH]C(=O)[NH]2 | 3027.7 | Standard polar | 33892256 | Uric acid,1TMS,isomer #3 | C[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)[NH]2)C1=O | 2039.9 | Semi standard non polar | 33892256 | Uric acid,1TMS,isomer #3 | C[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)[NH]2)C1=O | 2176.8 | Standard non polar | 33892256 | Uric acid,1TMS,isomer #3 | C[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)[NH]2)C1=O | 3177.7 | Standard polar | 33892256 | Uric acid,1TMS,isomer #4 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)[NH]2 | 2008.2 | Semi standard non polar | 33892256 | Uric acid,1TMS,isomer #4 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)[NH]2 | 2120.4 | Standard non polar | 33892256 | Uric acid,1TMS,isomer #4 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)[NH]2 | 3138.6 | Standard polar | 33892256 | Uric acid,2TMS,isomer #1 | C[Si](C)(C)N1C(=O)N([Si](C)(C)C)C2=C1[NH]C(=O)[NH]C2=O | 1951.6 | Semi standard non polar | 33892256 | Uric acid,2TMS,isomer #1 | C[Si](C)(C)N1C(=O)N([Si](C)(C)C)C2=C1[NH]C(=O)[NH]C2=O | 2237.9 | Standard non polar | 33892256 | Uric acid,2TMS,isomer #1 | C[Si](C)(C)N1C(=O)N([Si](C)(C)C)C2=C1[NH]C(=O)[NH]C2=O | 2612.3 | Standard polar | 33892256 | Uric acid,2TMS,isomer #2 | C[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)N2[Si](C)(C)C)C1=O | 2027.6 | Semi standard non polar | 33892256 | Uric acid,2TMS,isomer #2 | C[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)N2[Si](C)(C)C)C1=O | 2300.0 | Standard non polar | 33892256 | Uric acid,2TMS,isomer #2 | C[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)N2[Si](C)(C)C)C1=O | 2692.8 | Standard polar | 33892256 | Uric acid,2TMS,isomer #3 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1N([Si](C)(C)C)C(=O)[NH]2 | 1948.6 | Semi standard non polar | 33892256 | Uric acid,2TMS,isomer #3 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1N([Si](C)(C)C)C(=O)[NH]2 | 2280.3 | Standard non polar | 33892256 | Uric acid,2TMS,isomer #3 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1N([Si](C)(C)C)C(=O)[NH]2 | 2726.2 | Standard polar | 33892256 | Uric acid,2TMS,isomer #4 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)N2[Si](C)(C)C | 1999.6 | Semi standard non polar | 33892256 | Uric acid,2TMS,isomer #4 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)N2[Si](C)(C)C | 2219.1 | Standard non polar | 33892256 | Uric acid,2TMS,isomer #4 | C[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)N2[Si](C)(C)C | 2560.0 | Standard polar | 33892256 | Uric acid,2TMS,isomer #5 | C[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C)C(=O)[NH]2 | 2070.1 | Semi standard non polar | 33892256 | Uric acid,2TMS,isomer #5 | C[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C)C(=O)[NH]2 | 2273.8 | Standard non polar | 33892256 | Uric acid,2TMS,isomer #5 | C[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C)C(=O)[NH]2 | 2568.9 | Standard polar | 33892256 | Uric acid,2TMS,isomer #6 | C[Si](C)(C)N1C(=O)C2=C([NH]C(=O)[NH]2)N([Si](C)(C)C)C1=O | 2015.9 | Semi standard non polar | 33892256 | Uric acid,2TMS,isomer #6 | C[Si](C)(C)N1C(=O)C2=C([NH]C(=O)[NH]2)N([Si](C)(C)C)C1=O | 2295.3 | Standard non polar | 33892256 | Uric acid,2TMS,isomer #6 | C[Si](C)(C)N1C(=O)C2=C([NH]C(=O)[NH]2)N([Si](C)(C)C)C1=O | 2680.8 | Standard polar | 33892256 | Uric acid,3TMS,isomer #1 | C[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C)C(=O)N2[Si](C)(C)C | 2057.2 | Semi standard non polar | 33892256 | Uric acid,3TMS,isomer #1 | C[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C)C(=O)N2[Si](C)(C)C | 2239.7 | Standard non polar | 33892256 | Uric acid,3TMS,isomer #1 | C[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C)C(=O)N2[Si](C)(C)C | 2309.4 | Standard polar | 33892256 | Uric acid,3TMS,isomer #2 | C[Si](C)(C)N1C(=O)N([Si](C)(C)C)C2=C1C(=O)[NH]C(=O)N2[Si](C)(C)C | 2037.5 | Semi standard non polar | 33892256 | Uric acid,3TMS,isomer #2 | C[Si](C)(C)N1C(=O)N([Si](C)(C)C)C2=C1C(=O)[NH]C(=O)N2[Si](C)(C)C | 2251.4 | Standard non polar | 33892256 | Uric acid,3TMS,isomer #2 | C[Si](C)(C)N1C(=O)N([Si](C)(C)C)C2=C1C(=O)[NH]C(=O)N2[Si](C)(C)C | 2304.2 | Standard polar | 33892256 | Uric acid,3TMS,isomer #3 | C[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C)C(=O)[NH]2)N([Si](C)(C)C)C1=O | 2086.2 | Semi standard non polar | 33892256 | Uric acid,3TMS,isomer #3 | C[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C)C(=O)[NH]2)N([Si](C)(C)C)C1=O | 2287.0 | Standard non polar | 33892256 | Uric acid,3TMS,isomer #3 | C[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C)C(=O)[NH]2)N([Si](C)(C)C)C1=O | 2356.7 | Standard polar | 33892256 | Uric acid,3TMS,isomer #4 | C[Si](C)(C)N1C(=O)C2=C([NH]C(=O)N2[Si](C)(C)C)N([Si](C)(C)C)C1=O | 2074.1 | Semi standard non polar | 33892256 | Uric acid,3TMS,isomer #4 | C[Si](C)(C)N1C(=O)C2=C([NH]C(=O)N2[Si](C)(C)C)N([Si](C)(C)C)C1=O | 2229.1 | Standard non polar | 33892256 | Uric acid,3TMS,isomer #4 | C[Si](C)(C)N1C(=O)C2=C([NH]C(=O)N2[Si](C)(C)C)N([Si](C)(C)C)C1=O | 2298.4 | Standard polar | 33892256 | Uric acid,4TMS,isomer #1 | C[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C)C1=O)N([Si](C)(C)C)C(=O)N2[Si](C)(C)C | 2285.6 | Semi standard non polar | 33892256 | Uric acid,4TMS,isomer #1 | C[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C)C1=O)N([Si](C)(C)C)C(=O)N2[Si](C)(C)C | 2273.3 | Standard non polar | 33892256 | Uric acid,4TMS,isomer #1 | C[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C)C1=O)N([Si](C)(C)C)C(=O)N2[Si](C)(C)C | 2154.2 | Standard polar | 33892256 | Uric acid,1TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C1[NH]C(=O)[NH]C2=O | 2126.0 | Semi standard non polar | 33892256 | Uric acid,1TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C1[NH]C(=O)[NH]C2=O | 2405.6 | Standard non polar | 33892256 | Uric acid,1TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C1[NH]C(=O)[NH]C2=O | 3121.0 | Standard polar | 33892256 | Uric acid,1TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C1C(=O)[NH]C(=O)[NH]2 | 2179.5 | Semi standard non polar | 33892256 | Uric acid,1TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C1C(=O)[NH]C(=O)[NH]2 | 2385.7 | Standard non polar | 33892256 | Uric acid,1TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C1C(=O)[NH]C(=O)[NH]2 | 2968.3 | Standard polar | 33892256 | Uric acid,1TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)[NH]2)C1=O | 2191.5 | Semi standard non polar | 33892256 | Uric acid,1TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)[NH]2)C1=O | 2434.9 | Standard non polar | 33892256 | Uric acid,1TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)[NH]2)C1=O | 3113.0 | Standard polar | 33892256 | Uric acid,1TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)[NH]2 | 2159.9 | Semi standard non polar | 33892256 | Uric acid,1TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)[NH]2 | 2396.1 | Standard non polar | 33892256 | Uric acid,1TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)[NH]2 | 3061.1 | Standard polar | 33892256 | Uric acid,2TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)N([Si](C)(C)C(C)(C)C)C2=C1[NH]C(=O)[NH]C2=O | 2286.5 | Semi standard non polar | 33892256 | Uric acid,2TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)N([Si](C)(C)C(C)(C)C)C2=C1[NH]C(=O)[NH]C2=O | 2648.8 | Standard non polar | 33892256 | Uric acid,2TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)N([Si](C)(C)C(C)(C)C)C2=C1[NH]C(=O)[NH]C2=O | 2629.5 | Standard polar | 33892256 | Uric acid,2TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)N2[Si](C)(C)C(C)(C)C)C1=O | 2409.6 | Semi standard non polar | 33892256 | Uric acid,2TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)N2[Si](C)(C)C(C)(C)C)C1=O | 2668.3 | Standard non polar | 33892256 | Uric acid,2TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C([NH]C(=O)N2[Si](C)(C)C(C)(C)C)C1=O | 2681.8 | Standard polar | 33892256 | Uric acid,2TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1N([Si](C)(C)C(C)(C)C)C(=O)[NH]2 | 2330.3 | Semi standard non polar | 33892256 | Uric acid,2TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1N([Si](C)(C)C(C)(C)C)C(=O)[NH]2 | 2699.8 | Standard non polar | 33892256 | Uric acid,2TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1N([Si](C)(C)C(C)(C)C)C(=O)[NH]2 | 2699.4 | Standard polar | 33892256 | Uric acid,2TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)N2[Si](C)(C)C(C)(C)C | 2358.6 | Semi standard non polar | 33892256 | Uric acid,2TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)N2[Si](C)(C)C(C)(C)C | 2611.7 | Standard non polar | 33892256 | Uric acid,2TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C(=O)C2=C1[NH]C(=O)N2[Si](C)(C)C(C)(C)C | 2595.1 | Standard polar | 33892256 | Uric acid,2TBDMS,isomer #5 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C(C)(C)C)C(=O)[NH]2 | 2400.3 | Semi standard non polar | 33892256 | Uric acid,2TBDMS,isomer #5 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C(C)(C)C)C(=O)[NH]2 | 2661.6 | Standard non polar | 33892256 | Uric acid,2TBDMS,isomer #5 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C(C)(C)C)C(=O)[NH]2 | 2615.3 | Standard polar | 33892256 | Uric acid,2TBDMS,isomer #6 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C([NH]C(=O)[NH]2)N([Si](C)(C)C(C)(C)C)C1=O | 2374.2 | Semi standard non polar | 33892256 | Uric acid,2TBDMS,isomer #6 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C([NH]C(=O)[NH]2)N([Si](C)(C)C(C)(C)C)C1=O | 2704.4 | Standard non polar | 33892256 | Uric acid,2TBDMS,isomer #6 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C([NH]C(=O)[NH]2)N([Si](C)(C)C(C)(C)C)C1=O | 2673.0 | Standard polar | 33892256 | Uric acid,3TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C(C)(C)C)C(=O)N2[Si](C)(C)C(C)(C)C | 2585.5 | Semi standard non polar | 33892256 | Uric acid,3TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C(C)(C)C)C(=O)N2[Si](C)(C)C(C)(C)C | 2853.4 | Standard non polar | 33892256 | Uric acid,3TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)[NH]C2=C(C1=O)N([Si](C)(C)C(C)(C)C)C(=O)N2[Si](C)(C)C(C)(C)C | 2592.5 | Standard polar | 33892256 | Uric acid,3TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)N([Si](C)(C)C(C)(C)C)C2=C1C(=O)[NH]C(=O)N2[Si](C)(C)C(C)(C)C | 2556.8 | Semi standard non polar | 33892256 | Uric acid,3TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)N([Si](C)(C)C(C)(C)C)C2=C1C(=O)[NH]C(=O)N2[Si](C)(C)C(C)(C)C | 2865.3 | Standard non polar | 33892256 | Uric acid,3TBDMS,isomer #2 | CC(C)(C)[Si](C)(C)N1C(=O)N([Si](C)(C)C(C)(C)C)C2=C1C(=O)[NH]C(=O)N2[Si](C)(C)C(C)(C)C | 2589.6 | Standard polar | 33892256 | Uric acid,3TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C(C)(C)C)C(=O)[NH]2)N([Si](C)(C)C(C)(C)C)C1=O | 2597.1 | Semi standard non polar | 33892256 | Uric acid,3TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C(C)(C)C)C(=O)[NH]2)N([Si](C)(C)C(C)(C)C)C1=O | 2873.4 | Standard non polar | 33892256 | Uric acid,3TBDMS,isomer #3 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C(C)(C)C)C(=O)[NH]2)N([Si](C)(C)C(C)(C)C)C1=O | 2617.7 | Standard polar | 33892256 | Uric acid,3TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C([NH]C(=O)N2[Si](C)(C)C(C)(C)C)N([Si](C)(C)C(C)(C)C)C1=O | 2606.6 | Semi standard non polar | 33892256 | Uric acid,3TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C([NH]C(=O)N2[Si](C)(C)C(C)(C)C)N([Si](C)(C)C(C)(C)C)C1=O | 2850.4 | Standard non polar | 33892256 | Uric acid,3TBDMS,isomer #4 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C([NH]C(=O)N2[Si](C)(C)C(C)(C)C)N([Si](C)(C)C(C)(C)C)C1=O | 2585.9 | Standard polar | 33892256 | Uric acid,4TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C(C)(C)C)C1=O)N([Si](C)(C)C(C)(C)C)C(=O)N2[Si](C)(C)C(C)(C)C | 2848.1 | Semi standard non polar | 33892256 | Uric acid,4TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C(C)(C)C)C1=O)N([Si](C)(C)C(C)(C)C)C(=O)N2[Si](C)(C)C(C)(C)C | 3056.1 | Standard non polar | 33892256 | Uric acid,4TBDMS,isomer #1 | CC(C)(C)[Si](C)(C)N1C(=O)C2=C(N([Si](C)(C)C(C)(C)C)C1=O)N([Si](C)(C)C(C)(C)C)C(=O)N2[Si](C)(C)C(C)(C)C | 2617.1 | Standard polar | 33892256 |
|
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| GC-MS SpectraSpectrum Type | Description | Splash Key | Deposition Date | Source | View |
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Experimental GC-MS | GC-MS Spectrum - Uric acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized) | splash10-0537-0913400000-bd24364053510c462ade | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Uric acid GC-MS (4 TMS) | splash10-052f-0603900000-8c1224738bed2608c262 | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Uric acid GC-MS (3 TMS) | splash10-0g59-5917000000-4b28946431495667844b | 2014-06-16 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Uric acid GC-EI-TOF (Non-derivatized) | splash10-0537-0913400000-bd24364053510c462ade | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Uric acid GC-MS (Non-derivatized) | splash10-052f-0603900000-8c1224738bed2608c262 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Uric acid GC-MS (Non-derivatized) | splash10-0g59-5917000000-4b28946431495667844b | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Experimental GC-MS | GC-MS Spectrum - Uric acid GC-EI-TOF (Non-derivatized) | splash10-052g-0902500000-05851611f4bbf0745b81 | 2017-09-12 | HMDB team, MONA, MassBank | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Uric acid GC-MS (Non-derivatized) - 70eV, Positive | splash10-00os-4900000000-54b6de73b60ab2faad65 | 2016-09-22 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Uric acid GC-MS (Non-derivatized) - 70eV, Positive | Not Available | 2021-10-12 | Wishart Lab | View Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - Uric acid GC-MS (Non-derivatized) - 70eV, Positive | Not Available | 2021-10-12 | Wishart Lab | View Spectrum | MS | Mass Spectrum (Electron Ionization) | splash10-002f-9200000000-e5abb655836214cc56b3 | 2014-09-20 | Not Available | View Spectrum |
MS/MS SpectraSpectrum Type | Description | Splash Key | Deposition Date | Source | View |
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Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid Quattro_QQQ 10V, Positive-QTOF (Annotated) | splash10-014i-0900000000-0525c12dc3951f55a2c8 | 2012-07-24 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid Quattro_QQQ 25V, Positive-QTOF (Annotated) | splash10-006w-9500000000-fe10d491ad634ca46332 | 2012-07-24 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid Quattro_QQQ 40V, Positive-QTOF (Annotated) | splash10-0gbd-9100000000-d48a3e7919c385949313 | 2012-07-24 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid , negative-QTOF | splash10-01c0-3900000000-b3b3f0a20aaac71095d7 | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid LC-ESI-IT , positive-QTOF | splash10-0f6x-0900000000-a6699ab18f69b21b3823 | 2017-09-14 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 30V, Negative-QTOF | splash10-0006-9000000000-ed929369da80ee084e89 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 40V, Negative-QTOF | splash10-0006-9000000000-dae78aaa83fc4120e56f | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 20V, Negative-QTOF | splash10-00r7-9500000000-120c639f57df45d23153 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 40V, Negative-QTOF | splash10-0a4i-9000000000-96d2ee50d279f8056671 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 10V, Negative-QTOF | splash10-00xr-4900000000-1d613278865ada2e6457 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 10V, Negative-QTOF | splash10-01b9-2900000000-a8460af7fe6f1d23fbfe | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 40V, Positive-QTOF | splash10-0btc-9000000000-d9b1f657e4c7e43bd776 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 20V, Negative-QTOF | splash10-02na-9500000000-7dddbc2120455b19bba9 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 35V, Negative-QTOF | splash10-01c0-3900000000-95ebf9c951d7085b85e3 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 20V, Positive-QTOF | splash10-0gb9-1900000000-029e9b2adfbb2e0d26d8 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 10V, Positive-QTOF | splash10-014i-0900000000-88f140dfad19d2f058f6 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 10V, Positive-QTOF | splash10-0gcc-6900000000-d9540bd8f38fac1e92b0 | 2021-09-20 | HMDB team, MONA | View Spectrum | Experimental LC-MS/MS | LC-MS/MS Spectrum - Uric acid 20V, Positive-QTOF | splash10-0bt9-9200000000-80997201350d0752fbbf | 2021-09-20 | HMDB team, MONA | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Uric acid 10V, Positive-QTOF | splash10-014i-0900000000-971b5c8c5d975d306fed | 2015-05-27 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Uric acid 20V, Positive-QTOF | splash10-016r-1900000000-72edb3607fe9beb9b805 | 2015-05-27 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Uric acid 40V, Positive-QTOF | splash10-0zgi-9500000000-753be769a0b48fc2960b | 2015-05-27 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Uric acid 10V, Negative-QTOF | splash10-014i-0900000000-a4f5b18495486c5a1d5a | 2015-05-27 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Uric acid 20V, Negative-QTOF | splash10-01b9-1900000000-bc9e45f168dafb0d874c | 2015-05-27 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Uric acid 40V, Negative-QTOF | splash10-0006-9100000000-e01e386869d687364c61 | 2015-05-27 | Wishart Lab | View Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - Uric acid 10V, Negative-QTOF | splash10-014i-0900000000-e82d2b9a4cad815cef76 | 2021-09-22 | Wishart Lab | View Spectrum |
NMR SpectraSpectrum Type | Description | Deposition Date | Source | View |
---|
Predicted 1D NMR | 13C NMR Spectrum (1D, 100 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 1000 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 200 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 300 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 400 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 500 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 600 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 700 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 800 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum | Predicted 1D NMR | 13C NMR Spectrum (1D, 900 MHz, H2O, predicted) | 2022-08-22 | Wishart Lab | View Spectrum |
IR SpectraSpectrum Type | Description | Deposition Date | Source | View |
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Predicted IR Spectrum | IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M-H]-) | 2023-02-03 | FELIX lab | View Spectrum | Predicted IR Spectrum | IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M+H]+) | 2023-02-03 | FELIX lab | View Spectrum | Predicted IR Spectrum | IR Ion Spectrum (Predicted IRIS Spectrum, Adduct: [M+Na]+) | 2023-02-03 | FELIX lab | View Spectrum |
|
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Disease References | Diabetes mellitus type 2 |
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- Costa A, Iguala I, Bedini J, Quinto L, Conget I: Uric acid concentration in subjects at risk of type 2 diabetes mellitus: relationship to components of the metabolic syndrome. Metabolism. 2002 Mar;51(3):372-5. [PubMed:11887176 ]
| Impaired glucose tolerance |
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- Costa A, Iguala I, Bedini J, Quinto L, Conget I: Uric acid concentration in subjects at risk of type 2 diabetes mellitus: relationship to components of the metabolic syndrome. Metabolism. 2002 Mar;51(3):372-5. [PubMed:11887176 ]
| Gout |
---|
- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
| Lesch-Nyhan syndrome |
---|
- Nyhan WL: Lesch-Nyhan Disease. J Hist Neurosci. 2005 Mar;14(1):1-10. [PubMed:15804753 ]
- Gregoric A, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B: Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation. Pediatr Nephrol. 2005 Sep;20(9):1346-8. Epub 2005 Jun 18. [PubMed:15965771 ]
- Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buno AS, O'Neill P: The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore). 2001 Mar;80(2):102-12. [PubMed:11307586 ]
| Multiple sclerosis |
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- Toncev G, Milicic B, Toncev S, Samardzic G: Serum uric acid levels in multiple sclerosis patients correlate with activity of disease and blood-brain barrier dysfunction. Eur J Neurol. 2002 May;9(3):221-6. [PubMed:11985629 ]
| Bacterial meningitis |
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- Peng F, Zhang B, Zhong X, Li J, Xu G, Hu X, Qiu W, Pei Z: Serum uric acid levels of patients with multiple sclerosis and other neurological diseases. Mult Scler. 2008 Mar;14(2):188-96. Epub 2007 Oct 17. [PubMed:17942520 ]
| Cachexia |
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- Doehner W, Rauchhaus M, Florea VG, Sharma R, Bolger AP, Davos CH, Coats AJ, Anker SD: Uric acid in cachectic and noncachectic patients with chronic heart failure: relationship to leg vascular resistance. Am Heart J. 2001 May;141(5):792-9. [PubMed:11320368 ]
| Uremia |
---|
- Duranton F, Cohen G, De Smet R, Rodriguez M, Jankowski J, Vanholder R, Argiles A: Normal and pathologic concentrations of uremic toxins. J Am Soc Nephrol. 2012 Jul;23(7):1258-70. doi: 10.1681/ASN.2011121175. Epub 2012 May 24. [PubMed:22626821 ]
- Vanholder R, De Smet R, Glorieux G, Argiles A, Baurmeister U, Brunet P, Clark W, Cohen G, De Deyn PP, Deppisch R, Descamps-Latscha B, Henle T, Jorres A, Lemke HD, Massy ZA, Passlick-Deetjen J, Rodriguez M, Stegmayr B, Stenvinkel P, Tetta C, Wanner C, Zidek W: Review on uremic toxins: classification, concentration, and interindividual variability. Kidney Int. 2003 May;63(5):1934-43. doi: 10.1046/j.1523-1755.2003.00924.x. [PubMed:12675874 ]
| Stomach cancer |
---|
- Yu L, Aa J, Xu J, Sun M, Qian S, Cheng L, Yang S, Shi R: Metabolomic phenotype of gastric cancer and precancerous stages based on gas chromatography time-of-flight mass spectrometry. J Gastroenterol Hepatol. 2011 Aug;26(8):1290-7. doi: 10.1111/j.1440-1746.2011.06724.x. [PubMed:21443661 ]
| Schizophrenia |
---|
- Xuan J, Pan G, Qiu Y, Yang L, Su M, Liu Y, Chen J, Feng G, Fang Y, Jia W, Xing Q, He L: Metabolomic profiling to identify potential serum biomarkers for schizophrenia and risperidone action. J Proteome Res. 2011 Dec 2;10(12):5433-43. doi: 10.1021/pr2006796. Epub 2011 Nov 8. [PubMed:22007635 ]
- Cai HL, Li HD, Yan XZ, Sun B, Zhang Q, Yan M, Zhang WY, Jiang P, Zhu RH, Liu YP, Fang PF, Xu P, Yuan HY, Zhang XH, Hu L, Yang W, Ye HS: Metabolomic analysis of biochemical changes in the plasma and urine of first-episode neuroleptic-naive schizophrenia patients after treatment with risperidone. J Proteome Res. 2012 Aug 3;11(8):4338-50. doi: 10.1021/pr300459d. Epub 2012 Jul 26. [PubMed:22800120 ]
| Sulfite oxidase deficiency, ISOLATED |
---|
- Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS: Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. doi: 10.1016/j.ejpn.2016.05.011. Epub 2016 May 30. [PubMed:27289259 ]
- Choong T. et al. (2010). Clinical and Laboratory Barriers to the Timely Diagnosis of Sulphite Oxidase Deficiency. Proceedings of Singapore Healthcare, 19(2), 94-100.. Proceedings of Singapore Healthcare.
| Xanthinuria type 1 |
---|
- Mateos FA, Puig JG, Jimenez ML, Fox IH: Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. J Clin Invest. 1987 Mar;79(3):847-52. [PubMed:3818951 ]
- Eggermann T, Spengler S, Denecke B, Zerres K, Mache CJ: Multi-exon deletion in the XDH gene as a cause of classical xanthinuria. Clin Nephrol. 2013 Jan;79(1):78-80. [PubMed:23249873 ]
- Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B: Modern diagnostic approach to hereditary xanthinuria. Urolithiasis. 2015 Feb;43(1):61-7. doi: 10.1007/s00240-014-0734-4. Epub 2014 Nov 6. [PubMed:25370766 ]
| Molybdenum cofactor deficiency |
---|
- Sass JO, Kishikawa M, Puttinger R, Reiss J, Erwa W, Shimizu A, Sperl W: Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. J Inherit Metab Dis. 2003;26(1):80-2. [PubMed:12872846 ]
- Zaki MS, Selim L, El-Bassyouni HT, Issa MY, Mahmoud I, Ismail S, Girgis M, Sadek AA, Gleeson JG, Abdel Hamid MS: Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. Eur J Paediatr Neurol. 2016 Sep;20(5):714-22. doi: 10.1016/j.ejpn.2016.05.011. Epub 2016 May 30. [PubMed:27289259 ]
- van Gennip AH, Abeling NG, Stroomer AE, Overmars H, Bakker HD: The detection of molybdenum cofactor deficiency: clinical symptomatology and urinary metabolite profile. J Inherit Metab Dis. 1994;17(1):142-5. [PubMed:8051926 ]
| Primary hypomagnesemia |
---|
- Jin-no Y, Kamiya Y, Okada M, Hirako M, Takada N, Kawaguchi M: Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. Intern Med. 1999 Mar;38(3):261-5. [PubMed:10337938 ]
| Fructose-1,6-diphosphatase deficiency |
---|
- Pagliara AS, Karl IE, Keating JP, Brown BI, Kipnis DM: Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy. J Clin Invest. 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018. [PubMed:4341015 ]
| Phosphoribosylpyrophosphate Synthetase Superactivity |
---|
- Sperling O, Eilam G, Sara-Persky-Brosh, De Vries A: Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout. Biochem Med. 1972 Aug;6(4):310-6. [PubMed:4340256 ]
- Garcia-Pavia P, Torres RJ, Rivero M, Ahmed M, Garcia-Puig J, Becker MA: Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman. Arthritis Rheum. 2003 Jul;48(7):2036-41. doi: 10.1002/art.11058. [PubMed:12847698 ]
| Fanconi syndrome |
---|
- Cheng HM, Jap TS, Ho LT: Fanconi syndrome: report of a case. J Formos Med Assoc. 1990 Dec;89(12):1115-7. [PubMed:1982686 ]
| Cerebral creatine deficiency syndrome 2 |
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| D-Lactic Acidosis |
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| Long-chain Fatty Acids, Defect in Transport of |
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| congenital disorder of glycosylation CDG-Ia |
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- Harding BN, Dunger DB, Grant DB, Erdohazi M: Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):385-90. [PubMed:3162953 ]
| Molybdenium co-factor deficiency |
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- Aukett A, Bennett MJ, Hosking GP: Molybdenum co-factor deficiency: an easily missed inborn error of metabolism. Dev Med Child Neurol. 1988 Aug;30(4):531-5. [PubMed:3169394 ]
| Fanconi Bickel syndrome |
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- Nirupama Gupta, Bimota Nambam, David A. Weinstein, and Lawrence R. Shoemaker (2016). Late Diagnosis of Fanconi-Bickel Syndrome: Challenges With the Diagnosis and Literature Review . Journal of Inborn Errors of Metabolism and Screening.
| Degenerative disc disease |
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- Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed:6656991 ]
| Meningitis |
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- Kastenbauer S, Koedel U, Becker BF, Pfister HW: Oxidative stress in bacterial meningitis in humans. Neurology. 2002 Jan 22;58(2):186-91. [PubMed:11805243 ]
| Adenylosuccinate lyase deficiency |
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- Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed:15571235 ]
| 3-Methyl-crotonyl-glycinuria |
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- de Kremer RD, Latini A, Suormala T, Baumgartner ER, Larovere L, Civallero G, Guelbert N, Paschini-Capra A, Depetris-Boldini C, Mayor CQ: Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis. 2002 Mar;17(1):13-8. [PubMed:11893004 ]
| Colorectal cancer |
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- Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016. [PubMed:27275383 ]
- Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016. [PubMed:27015276 ]
- Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
| Canavan disease |
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- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed:16139832 ]
| Fructose intolerance, hereditary |
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- Steinmann B, Gitzelmann R: The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta. 1981 Sep;36(4):297-316. [PubMed:6268573 ]
| Nucleotide Depletion Syndrome |
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- Page T, Yu A, Fontanesi J, Nyhan WL: Developmental disorder associated with increased cellular nucleotidase activity. Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11601-6. [PubMed:9326656 ]
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