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

• Main Authors: Allysa M. Dijkstra (Author), Kimber Evers-van Vliet (Author), M. Rebecca Heiner-Fokkema (Author), Frank A. J. A. Bodewes (Author), Dennis K. Bos (Author), József Zsiros (Author), Koen J. van Aerde (Author), Klaas Koop (Author), Francjan J. van Spronsen (Author), Charlotte M. A. Lubout (Author)
• Format: Book
• Published: MDPI AG, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...