Development of Flow Injection Analysis Method for the Second-Tier Estimation of Succinylacetone in Dried Blood Spot of Newborn Screening.

ABSTRACT: Tyrosinemia type 1 (TYR1) is a devastating aminoacidopathy, leading to mortality without medical intervention. Although, detection and quantification of tyrosine in dried blood spot (DBS) is possible, but being a non-specific marker for TYR1 and its frequent association with transient neonatal tyrosinemia limits its applicability. Despite, Succinylacetone (SUAC) being a pathognomonic marker for TYR1, but not often detectable by routine newborn screening (NBS). We envisaged to determine SUAC in DBS by an in-house flow injection analysis method on a liquid chromatography/tandem mass spectrometry (LC-MS/MS). Succinylacetone was eluted from the residual 3.2 mm DBS of primary NBS by an extraction solution containing acetonitrile-water-formic acid mixture containing stable-isotope labelled inter

SUBMITTER: Varughese B 

PROVIDER: S-EPMC8799791 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature