We thank the authors for their comments [...].</p

Bodewes, Frank A J A

Bos, Dennis K

Dijkstra, Allysa M

Evers-van Vliet, Kimber

Heiner-Fokkema, M Rebecca

Koop, Klaas

Lubout, Charlotte M A

van Aerde, Koen J

van Spronsen, Francjan J

Zsiros, József

English

ARTS repository - University of Groningen

   University of GroningenReply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen forTyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone.Int. J. Neonatal Screen. 2023, 9, 66”Dijkstra, Allysa M; Evers-van Vliet, Kimber; Heiner-Fokkema, M Rebecca; Bodewes, Frank AJ A; Bos, Dennis K; Zsiros, József; van Aerde, Koen J; Koop, Klaas; van Spronsen, FrancjanJ; Lubout, Charlotte M APublished in:International journal of neonatal screeningDOI:10.3390/ijns10040066IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite fromit. Please check the document version below.Document VersionPublisher's PDF, also known as Version of recordPublication date:2024Link to publication in University of Groningen/UMCG research databaseCitation for published version (APA):Dijkstra, A. M., Evers-van Vliet, K., Heiner-Fokkema, M. R., Bodewes, F. A. J. A., Bos, D. K., Zsiros, J., vanAerde, K. J., Koop, K., van Spronsen, F. J., & Lubout, C. M. A. (2024). Reply to Bouva et al. Comment on“Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation ofNewborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”. International journal ofneonatal screening, 10(4), Article 66. https://doi.org/10.3390/ijns10040066CopyrightOther than for strictly personal use, it is not permitted to download or to forward/distribute the text or part of it without the consent of theauthor(s) and/or copyright holder(s), unless the work is under an open content license (like Creative Commons).The publication may also be distributed here under the terms of Article 25fa of the Dutch Copyright Act, indicated by the “Taverne” license.More information can be found on the University of Groningen website: https://www.rug.nl/library/open-access/self-archiving-pure/taverne-amendment.Take-down policyIf you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediatelyand investigate your claim.Downloaded from the University of Groningen/UMCG research database (Pure): http://www.rug.nl/research/portal. For technical reasons thenumber of authors shown on this cover page is limited to 10 maximum.Download date: 12-12-2024Citation: Dijkstra, A.M.; Evers-vanVliet, K.; Heiner-Fokkema, M.R.;Bodewes, F.A.J.A.; Bos, D.K.; Zsiros, J.;van Aerde, K.J.; Koop, K.; vanSpronsen, F.J.; Lubout, C.M.A. Replyto Bouva et al. Comment on “Dijkstraet al. A False-Negative NewbornScreen for Tyrosinemia Type 1—Needfor Re-Evaluation of NewbornScreening with Succinylacetone. Int. J.Neonatal Screen. 2023, 9, 66”. Int. J.Neonatal Screen. 2024, 10, 66.https://doi.org/10.3390/ijns10040066Received: 22 July 2024Accepted: 17 September 2024Published: 24 September 2024Copyright: © 2024 by the authors.Published by MDPI on behalf of theInternational Society for NeonatalScreening. Licensee MDPI, Basel,Switzerland. This article is an openaccess article distributed under theterms and conditions of the CreativeCommons Attribution (CC BY) license(https://creativecommons.org/licenses/by/4.0/).International Journal ofNeonatal ScreeningReplyReply to Bouva et al. Comment on “Dijkstra et al. AFalse-Negative Newborn Screen for Tyrosinemia Type 1—Needfor Re-Evaluation of Newborn Screening with Succinylacetone.Int. J. Neonatal Screen. 2023, 9, 66”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 1and Charlotte M. A. Lubout 1,*1 Section of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center Groningen, Universityof Groningen, 9700 RB Groningen, The Netherlands; f.j.van.spronsen@umcg.nl (F.J.v.S.)2 Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen,University of Groningen, 9700 RB Groningen, The Netherlands; m.r.heiner@umcg.nl3 Section of Pediatric Gastroenterology and Hepatology, Beatrix Children’s Hospital, University Medical CenterGroningen, University of Groningen, 9700 RB Groningen, The Netherlands4 Department of Genetics, University Medical Center Groningen, University of Groningen,9700 RB Groningen, The Netherlands5 Princess Máxima Center for Pediatric Oncology, 3584 CX Utrecht, The Netherlands6 Department of Pediatric Infectious Disease and Immunology, Amalia’s Children Hospital, RadboudUniversity Medical Center, 6525 GA Nijmegen, The Netherlands7 Section Metabolic Diseases, Department of Pediatrics, University Medical Center Utrecht,3584 CX Utrecht, The Netherlands* Correspondence: c.m.a.lubout@umcg.nlWe thank the authors for their comments [1]. We are happy that they agree with thecontent of the report [2] and underline the importance of having optimal cut-off values ofsuccinylacetone in order to—on the one hand—not miss patients like the one presentedin this report and, on the other hand, to exclude false positive results, for example, dueto a MAAI deficiency. As stated in the original article (Van Vliet et al. 2023, [3]), thismight 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 mildTyrosinemia type I who need treatment from those with MAAI deficiency, who do not needtreatment at all.Regarding this aim, the results from the mutual project on the improvement of new-born 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 onMAAI deficiency.Conflicts of Interest: The authors declare no conflicts of interest.Int. J. Neonatal Screen. 2024, 10, 66. https://doi.org/10.3390/ijns10040066 https://www.mdpi.com/journal/ijnsInt. J. Neonatal Screen. 2024, 10, 66 2 of 2References1. Bouva, M.J.; Maase, R.E.; van Elburg, R.M. Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. Int. J. Neonatal Screen.2024, 10, 65. [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.; vanSpronsen, F.J.; Lubout, C.M.A. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of NewbornScreening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66. [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 newbornscreening of tyrosinemia type 1. J. Inherit. Metab. Dis. 2023, 46, 1104–1113. [CrossRef] [PubMed]Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individualauthor(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury topeople or property resulting from any ideas, methods, instructions or products referred to in the content.

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”

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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”

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