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Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66
 
 
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Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”

by
Allysa M. Dijkstra
1,
Kimber Evers-van Vliet
1,
M. Rebecca Heiner-Fokkema
2,
Frank A. J. A. Bodewes
3,
Dennis K. Bos
4,
József Zsiros
5,
Koen J. van Aerde
6,
Klaas Koop
7,
Francjan J. van Spronsen
1 and
Charlotte M. A. Lubout
1,*
1
Section of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
2
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
3
Section of Pediatric Gastroenterology and Hepatology, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
4
Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands
5
Princess Máxima Center for Pediatric Oncology, 3584 CX Utrecht, The Netherlands
6
Department of Pediatric Infectious Disease and Immunology, Amalia’s Children Hospital, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
7
Section Metabolic Diseases, Department of Pediatrics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2024, 10(4), 66; https://doi.org/10.3390/ijns10040066
Submission received: 22 July 2024 / Accepted: 17 September 2024 / Published: 24 September 2024
(This article belongs to the Special Issue Newborn Screening for Disorders of Amino Acid Metabolism)
Versions Notes
We thank the authors for their comments [1]. We are happy that they agree with the content of the report [2] and underline the importance of having optimal cut-off values of succinylacetone in order to—on the one hand—not miss patients like the one presented in this report and, on the other hand, to exclude false positive results, for example, due to a MAAI deficiency. As stated in the original article (Van Vliet et al. 2023, [3]), this might mean that the succinylacetone cut-off in the newborn screening needs to be lowered, while adding additional biomarkers that can be used to distinguish children with mild Tyrosinemia type I who need treatment from those with MAAI deficiency, who do not need treatment at all.
Regarding this aim, the results from the mutual project on the improvement of newborn screening for Tyrosinemia type I, as mentioned in the comment, are needed.
We further call attention to other institutes who have children with a (suspected) MAAI deficiency to send us dried blood spots and urine to increase our knowledge on MAAI deficiency.

Conflicts of Interest

The authors declare no conflicts of interest.

References

  1. Bouva, M.J.; Maase, R.E.; van Elburg, R.M. Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. Int. J. Neonatal Screen. 2024, 10, 65. [Google Scholar] [CrossRef]
  2. Dijkstra, A.M.; Evers-van Vliet, K.; Heiner-Fokkema, M.R.; Bodewes, F.A.J.A.; Bos, D.K.; Zsiros, J.; van Aerde, K.J.; Koop, K.; van Spronsen, F.J.; Lubout, C.M.A. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. [Google Scholar] [CrossRef] [PubMed]
  3. van Vliet, K.; Dijkstra, A.M.; Bouva, M.J.; van der Krogt, J.; Bijsterveld, K.; van der Sluijs, F.; de Sain-van der Velden, M.G.; Koop, K.; Rossi, A.; Thomas, J.A.; et al. Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1. J. Inherit. Metab. Dis. 2023, 46, 1104–1113. [Google Scholar] [CrossRef] [PubMed]
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MDPI and ACS Style

Dijkstra, A.M.; Evers-van Vliet, K.; Heiner-Fokkema, M.R.; Bodewes, F.A.J.A.; Bos, D.K.; Zsiros, J.; van Aerde, K.J.; Koop, K.; van Spronsen, F.J.; Lubout, C.M.A. Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”. Int. J. Neonatal Screen. 2024, 10, 66. https://doi.org/10.3390/ijns10040066

AMA Style

Dijkstra AM, Evers-van Vliet K, Heiner-Fokkema MR, Bodewes FAJA, Bos DK, Zsiros J, van Aerde KJ, Koop K, van Spronsen FJ, Lubout CMA. Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”. International Journal of Neonatal Screening. 2024; 10(4):66. https://doi.org/10.3390/ijns10040066

Chicago/Turabian Style

Dijkstra, Allysa M., 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, and Charlotte M. A. Lubout. 2024. "Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”" International Journal of Neonatal Screening 10, no. 4: 66. https://doi.org/10.3390/ijns10040066

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