A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker for TT1 newborn screening (NBS). While SA was...

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Bibliographic Details
Main Authors: Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Neonatal Screening
Subjects:
tyrosinemia type 1
succinylacetone
cirrhosis
hepatocellular carcinoma
newborn screening
Online Access:https://www.mdpi.com/2409-515X/9/4/66

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https://www.mdpi.com/2409-515X/9/4/66

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