| Record Information |
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| Version | 5.0 |
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| Status | Detected and Quantified |
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| Creation Date | 2024-06-05 20:43:46 UTC |
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| Update Date | 2024-11-19 19:06:39 UTC |
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| HMDB ID | HMDB0341532 |
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| Secondary Accession Numbers | None |
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| Metabolite Identification |
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| Common Name | 2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylic acid |
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| Description | 2S,6S-/2S,6R-OxoPropylPiperidine-2-carboxylic acid, two 2-OPP diastereomers, accumulate in brain tissue and body fluids of patients with Pyridoxin Dependent Epilepsy (#MIM266100; PDE-ALDH7A1) and in Aldh7a1-knockout mice. 2-OPP is a stable biomarker for this disease. It is formed by reaction of P6C with acetoacetate under physiological conditions. 2-OPP induced epilepsy-like behavior in a zebrafish model system. It may contribute to ongoing neurotoxicity, also in treated PDE-ALDH7A1 patients. 2-OPP seems suited as a PDE-biomarker in newborn screening. (PMID: 34138754 ) |
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| Structure | |
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| Synonyms | Not Available |
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| Chemical Formula | C9H15NO3 |
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| Average Molecular Weight | 185.223 |
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| Monoisotopic Molecular Weight | 185.105193347 |
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| IUPAC Name | Not Available |
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| Traditional Name | Not Available |
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| CAS Registry Number | Not Available |
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| SMILES | Not Available |
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| InChI Identifier | InChI=1/C9H15NO3/c1-6(11)4-7-2-3-8(9(12)13)10-5-7/h7-8,10H,2-5H2,1H3,(H,12,13)/t7-,8?/s2 |
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| InChI Key | MKEXPIVTMXFKGD-XWIRWTPLNA-N |
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| Chemical Taxonomy |
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| Classification | Not classified |
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| Ontology |
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| Not Available | Not Available |
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| Physical Properties |
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| State | Not Available |
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| Experimental Molecular Properties | | Property | Value | Reference |
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| Melting Point | Not Available | Not Available | | Boiling Point | Not Available | Not Available | | Water Solubility | Not Available | Not Available | | LogP | Not Available | Not Available |
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| Experimental Chromatographic Properties | Not Available |
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| Predicted Molecular Properties | Not Available |
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| Predicted Chromatographic Properties | Predicted Kovats Retention IndicesNot Available |
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| Spectra |
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| Biological Properties |
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| Cellular Locations | Not Available |
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| Biospecimen Locations | - Blood
- Cerebrospinal Fluid (CSF)
- Urine
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| Tissue Locations | Not Available |
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| Pathways | |
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| Normal Concentrations |
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| Blood | Detected and Quantified | <0.34 uM | Adult (>18 years old) | Both | Normal | | details | | Cerebrospinal Fluid (CSF) | Detected and Quantified | <0.01 (=LLOQ) uM | Adult (>18 years old) | Both | Normal | | details | | Urine | Detected and Quantified | <1.2 umol/mmol creatinine | Adult (>18 years old) | Both | Normal | | details |
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| Abnormal Concentrations |
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| Blood | Detected and Quantified | >1.0 uM | Adult (>18 years old) | Both | Pyridoxine-Dependent Epilepsy | | details | | Cerebrospinal Fluid (CSF) | Detected and Quantified | >0.11 uM | Adult (>18 years old) | Both | Pyridoxine-Dependent Epilepsy | | details | | Urine | Detected and Quantified | >0.22 umol/mmol creatinine | Adult (>18 years old) | Both | Pyridoxine-Dependent Epilepsy | | details |
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| Associated Disorders and Diseases |
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| Disease References | None |
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| Associated OMIM IDs | None |
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| External Links |
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| External Links | Not Available |
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| References |
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| Synthesis Reference | Not Available |
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| Material Safety Data Sheet (MSDS) | Not Available |
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| General References | - Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinovic J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL: Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. [PubMed:34138754 ]
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