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

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 antibi...

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Bibliographic Details
Main Authors: Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun, Ulrike Mütze, René Santer
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:JIMD Reports
Subjects:
isovaleric aciduria
IVA
newborn screening
pivaloylcarnitine
second‐tier
UPLC‐MS/MS
Online Access:https://doi.org/10.1002/jmd2.12345

Internet

https://doi.org/10.1002/jmd2.12345

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