Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples.

ABSTRACT:

Background

Nitisinone is used to treat hereditary tyrosinemia type 1 (HT-1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both SA and nitisinone for disease monitoring and optimization of treatment. Analysis of dried blood spots (DBS) rather than plasma samples is a convenient method, but interlaboratory differences and comparability of DBS to serum/plasma may be issues to consider.

Methods

Eight laboratories with experience in newborn screening and/or monitoring of patients with HT-1 across Europe participated in this study to assess variability and improve SA and nitisinone concentration measurements from DBS by liquid chromatography-tandem mass s

SUBMITTER: Laeremans H 

PROVIDER: S-EPMC7203657 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature