S-2OPP

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-(2–oxopropyl)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

• Chemical Information

  CAS No.: 1219818-21-9
  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