title: Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
abstract: α-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE using a LC-MS/MS method we developed previously. Both α-AASA and P6C were elevated markedly in the three newborn DBS stored at -20°C. At room temperature, α-AASA and P6C in DBS appeared stable for 3 days and then decreased by up to 70% after 14 days but remained much higher than control, indicating newborn screening for PDE is feasible.
authors: Seattle Children's Research Institute, Seattle, WA, USA.
authors: Sunhee
authors: S
authors: Jung
authors: Nguyen-Thao B
authors: NT
authors: Tran
authors: Sidney M
authors: SM
authors: Gospe
authors: Si Houn
authors: SH
authors: Hahn
mesh_terms: D015074:2-Aminoadipic Acid / Q000031:analogs & derivatives / Q000097:blood; D015415:Biomarkers / Q000097:blood; D002853:Chromatography, Liquid; D004827:Epilepsy / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D012189:Retrospective Studies; D053719:Tandem Mass Spectrometry
chemical_list: D015415:Biomarkers; D015074:2-Aminoadipic Acid; C000061:allysine
keywords: DBS; Dried blood spots; Dried blood spots (DBS); NBS; Newborn screening; Newborn screening (NBS); P6C; PDE; Piperideine-6-carboxylate; Pyridoxine-dependent epilepsy; Pyridoxine-dependent epilepsy (PDE); α-AASA; α-Aminoadipic semialdehyde (α-AASA); α-Aminoadipic semialdehyde antiquitin