LC-MS/MS based newborn screening for pyridoxine-dependent epilepsy (PDE) appears to be feasible based on Jung et al. (2013). ?-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE. Both compounds appeared to be significantly increased compared to samples from unaffected individuals (in newborn DBS stored at -20°C; but also in DBS stored at room temperature for 3 days). A decrease by up to 70% was noted after 14days of strorage at room temperature but the values remained much increased compared to controls.
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Jung S, Tran NT, Gospe SM Jr, Hahn SH. Mol Genet Metab. 2013 Nov;110(3):237-40. PMID: 23953072
Posted by Yannis Trakadis, MD