Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany.

ABSTRACT: Newborn screening (NBS) for isovaleric acidemia (IVA) is performed by flow injection tandem mass spectrometry quantifying C5 carnitines (C5). Isovalerylcarnitine, however, is isomeric with pivaloylcarnitine which can be present in blood due to maternal use of pivaloylester-containing antibiotics, available in Germany since late 2016. During a 36-month period (January 19-December 21), all newborns screened in Hamburg with a C5 above cutoff (NeoGram®: 0.50 μmol/L or Neobase®2: 0.45 μmol/L) were included in the study. As a second-tier test, a simple ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method was developed to differentiate the C5 isomers pivaloyl-, 2-methylbutyryl-, isovaleryl-, and valerylcarnitine. Out of 156 772 newborns tested, one turned out to ha

SUBMITTER: Murko S 

PROVIDER: S-EPMC9830014 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature