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Article

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in the Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone

by
Marelle J. Bouva
1,2,*,
Allysa M. Kuypers
3,
Evelien A. Kemper
4,
Rose E. Maase
1,
Annet M. Bosch
2,5,
Francjan J. van Spronsen
3,
Annemieke C. Heijboer
2,6,7,
M. Rebecca Heiner-Fokkema
8,
Sandra G. Heil
1 and
Anita Boelen
2,7
1
Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), 3721 MA Bilthoven, The Netherlands
2
Amsterdam Gastroenterology Endocrinology Metabolism, 1105 AZ Amsterdam, The Netherlands
3
Section of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
4
Department of Clinical Chemistry, IJsselland Hospital, 2906 ZC Capelle aan den IJssel, The Netherlands
5
Department of Pediatrics, Division of Metabolic Diseases, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
6
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands
7
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
8
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2025, 11(2), 35; https://doi.org/10.3390/ijns11020035
Submission received: 9 April 2025 / Revised: 28 April 2025 / Accepted: 3 May 2025 / Published: 9 May 2025
Versions Notes

Abstract

Currently, Dutch newborns are screened for tyrosinemia type 1 (TT1) using succinylacetone (SA) as the biomarker. Although the sensitivity of the test is high, a high number of false positives is observed. Here, the aim is to evaluate the current Dutch newborn-screening protocol and to assess alternatives, specifically the use of biomarkers that are already being measured, to increase the positive predictive value (PPV). TT1 screening was performed with the Revvity NeoBase assay between 2008 and 2017, and since 2018, the Revvity NeoBase 2 assay has been used. Data from 2018 to 2021 were used for evaluation. To simulate alternative screening protocols, these data were enriched with results of referrals from other periods and a false negative (FN) from 2010. In 2018–2021, 693,821 newborns were screened, resulting in 23 referrals, of whom two were TT1 patients. For this period, to date, no FN have been reported, resulting in a provisional sensitivity of 100%, a specificity of 99.997%, and a PPV and negative predictive value of 9% and 100%, respectively. To improve the PPV, we combined SA, tyrosine (tyr), tyr × SA and tyr/phenylalanine and achieved a PPV of 72% for this dataset without introducing FN in the original dataset. This illustrates that future screening for TT1 may benefit from the addition of these biomarkers.
Keywords: dried blood spot; newborn; neonatal screening; succinylacetone; tyrosinemia type 1; The Netherlands; sensitivity; positive predictive value dried blood spot; newborn; neonatal screening; succinylacetone; tyrosinemia type 1; The Netherlands; sensitivity; positive predictive value

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MDPI and ACS Style

Bouva, M.J.; Kuypers, A.M.; Kemper, E.A.; Maase, R.E.; Bosch, A.M.; van Spronsen, F.J.; Heijboer, A.C.; Heiner-Fokkema, M.R.; Heil, S.G.; Boelen, A. Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in the Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone. Int. J. Neonatal Screen. 2025, 11, 35. https://doi.org/10.3390/ijns11020035

AMA Style

Bouva MJ, Kuypers AM, Kemper EA, Maase RE, Bosch AM, van Spronsen FJ, Heijboer AC, Heiner-Fokkema MR, Heil SG, Boelen A. Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in the Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone. International Journal of Neonatal Screening. 2025; 11(2):35. https://doi.org/10.3390/ijns11020035

Chicago/Turabian Style

Bouva, Marelle J., Allysa M. Kuypers, Evelien A. Kemper, Rose E. Maase, Annet M. Bosch, Francjan J. van Spronsen, Annemieke C. Heijboer, M. Rebecca Heiner-Fokkema, Sandra G. Heil, and Anita Boelen. 2025. "Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in the Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone" International Journal of Neonatal Screening 11, no. 2: 35. https://doi.org/10.3390/ijns11020035

APA Style

Bouva, M. J., Kuypers, A. M., Kemper, E. A., Maase, R. E., Bosch, A. M., van Spronsen, F. J., Heijboer, A. C., Heiner-Fokkema, M. R., Heil, S. G., & Boelen, A. (2025). Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in the Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone. International Journal of Neonatal Screening, 11(2), 35. https://doi.org/10.3390/ijns11020035

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