A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone
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, Raquel Yahyaoui, Cristiano Rizzo · 2023
Read A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone by 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, Raquel Yahyaoui, Cristiano Rizzo (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10744279.txt.
Description
Allysa Dijkstra and co-authors told in 2023 of a boy whose newborn screen missed a grave liver disease. The disease, tyrosinemia type 1, poisons the liver when a food protein is broken down. A waste mark in blood is the screen's flag, and it was long held to rise in all cases. The boy's screen at birth read just below the Dutch cut line. At age nine he came in with liver cancer in a scarred liver, and tests then found the disease.
The team knows of no past false miss of this kind on that mark. Mild forms of the disease may shed less of the mark and slip the screen in any land, they warn. They urge doctors to weigh the disease in odd liver cases and lands to re-check their cut lines.
Catalog record
| CREATOR | 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, Raquel Yahyaoui, Cristiano Rizzo |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 18 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |