Biomarker of pyridoxin dependent epilepsy (PDE-ALDH7a1)

Product ID: SV7415
Synonyms: (2S)-6-(2-oxopropyl)piperidine-2-carboxylic acid
Tags: Biomarker, PDE
Product Price Estimated Shipping Time Purchase
13C3-S-2OPP - 1 mg
1,100.00 1-3 days
13C3-S-2OPP - 5 mg
2,500.00 1-3 days
13C3-S-2OPP - 10 mg
3,600.00 1-3 days

Product information

  • Function

    S-2OPP is a biomarker for pyridoxin dependent epilepsy (PDE).

  • Mode of action

    In pyridoxin dependent epilepsy, a defect in the gene encoding for α-aminoadipic semialdehyde (α-AASA) dehydrogenase (antiquitin), results in the accumulation of α-AASA which is in equilibrium with the reactive Δ1-piperideine-6-carboxylic acid (P6C).1,2 Condensation of P6C with pyridoxal 5′-phosphate (PLP, active form of vitamin B6), results in a deficiency of PLP, thought to be the main pathophysological mechanism of PDE.3

    Reaction of the accumulating P6C with acetoacetate or malonic acid under physiological conditions results in the formation of the biomarkers (2S)-6-(2oxopropyl)piperidine-2-carboxylic acid (2-OPP) and (2S)-6-(carboxymethyl)piperidine-2-carboxylic acid (CMP).4,5 The formation of another biomarker, 6-oxo-pip, is also formed under a yet unknown mechanism.6

  • Applications

    2-OPP can be applicable as first-tier PDE-ALDH7A1 newborn screening biomarker in dried blood spot (DBS), through a direct-infusion MS method compatible with common newborn screening workflows. Therefore, it can be used as biomarker for treatment monitoring and risk stratification for PDE-ALDH7A1 patients.4 The inclusion of 3 13C labels allows differentiation of the natural abundant isotope in a MS based workflow.

  • Chemical Information

    CAS No.: n/a
    SMILES: OC([C@@H]1CCC[C@@H](CC(C)=O)N1)=O
    Chemical formula: C9H15NO3
    Molecular weight: 185.22
    Purity: > 95%
    Identity: 1H NMR
    Shipping temperature: 20°C
    Storage temperature: -20°C


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