Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Péter Béla MonostoriGlynis KlinkeSylvia RichterÁkos BaráthRalph FingerhutMatthias R BaumgartnerStefan KölkerGeorg F HoffmannGwendolyn GramerJürgen G OkunPublished in: PloS one (2017)
A liquid chromatography-tandem mass spectrometry assay allowing simultaneous determination of the biomarkers 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in DBSs has been developed. The assay can use the same specimen as in primary screening (second-tier test) which may reduce the need for repeated blood sampling. The presented preliminary findings suggest that this method can reliably differentiate patients with PA and MMACBL in newborn screening. The validated assay is being evaluated prospectively in a pilot project for extension of the German newborn screening panel (‟Newborn screening 2020"; Newborn Screening Center, University Hospital Heidelberg).
Keyphrases
- simultaneous determination
- liquid chromatography tandem mass spectrometry
- high performance liquid chromatography
- tandem mass spectrometry
- high throughput
- solid phase extraction
- liquid chromatography
- ultra high performance liquid chromatography
- randomized controlled trial
- mass spectrometry
- study protocol
- double blind