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Special Issues
Newborn Screening for Disorders of Amino Acid Metabolism
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Newborn Screening for Disorders of Amino Acid Metabolism

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (31 May 2024) | Viewed by 3989

Special Issue Editors

Dr. Raquel Yahyaoui

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Guest Editor
Laboratory of Metabolic Disorders and Newborn Screening Centre of Eastern Andalusia, Málaga Regional University Hospital, Institute of Biomedical Research-IBIMA-Plataforma BIONAND, 29011 Málaga, Spain
Interests: inborn errors of metabolism; inherited metabolic disorders; biochemical genetics; newborn screening; tandem mass spectrometry; gene therapies
Special Issues, Collections and Topics in MDPI journals
Dr. Cristiano Rizzo

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Guest Editor
Department of Mebolism, Laboratory of Metabolism, Bambino Gesù Children’s Hospital, 00146 Rome, Italy
Interests: inborn errors of metabolism; metabolomics; lipids; biomarkers; mass spectrometry; chromatography

Special Issue Information

Dear Colleagues,

Inborn metabolic disorders affecting amino acid metabolism are generally rare but are, by their nature, complex and challenging conditions. They comprise a very heterogeneous group of diseases with highly variable presentations. Clinical severity may range from occasional incidental findings in some cases to overwhelming illness, brain damage, or multiorgan involvement in others. Neonatal screening for amino acid-related diseases became feasible as a result of the pioneering work of Robert Guthrie who developed a method which was used to detect phenylketonuria (PKU) by means of a semi-quantitative microbiological bioassay. Tandem mass spectrometry (MS/MS) has emerged as a rapid analysis technology with high sensitivity and specificity, which can be used to test PKU and a variety of amino acid-related disorders. In the last decades we have acquired great knowledge of the most informative biomarkers and desirable cut-off points to detect these diseases with optimal analytical performance.

This Special Issue will focus on the key contemporary aspects surrounding newborn screening for amino acid-related disorders. These key issues include the various techniques and novel biomarkers available for this newborn screening, screening algorithms, second-tier testing, diagnosis, short-term and long-term follow-up, analytical performance, the cost effectiveness, challenges and controversies. We encourage the submission of original research articles, communications, and topical reviews on all these mentioned aspects related to amino acid metabolism disorders and newborn screening. Further ideas can also be considered and should be discussed with the Guest Editors.

Dr. Raquel Yahyaoui
Dr. Cristiano Rizzo
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

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Published Papers (3 papers)

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2 pages, 177 KiB  
Reply
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, 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
Int. J. Neonatal Screen. 2024, 10(4), 66; https://doi.org/10.3390/ijns10040066 - 24 Sep 2024
Viewed by 543
Abstract
We thank the authors for their comments [...] Full article
(This article belongs to the Special Issue Newborn Screening for Disorders of Amino Acid Metabolism)
2 pages, 147 KiB  
Comment
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 Marelle J. Bouva, Rose E. Maase and Ruurd M. van Elburg
Int. J. Neonatal Screen. 2024, 10(4), 65; https://doi.org/10.3390/ijns10040065 - 24 Sep 2024
Cited by 1 | Viewed by 495
Abstract
The assessment of newborn screening (NBS) algorithms’ performance to ensure quality improvements is a continuous process: false-positive referrals can enable optimisations in the shorter term, but false-negative referrals are often only discovered many years after the screening has taken place [...] Full article
(This article belongs to the Special Issue Newborn Screening for Disorders of Amino Acid Metabolism)
7 pages, 258 KiB  
Case Report
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 and Charlotte M. A. Lubout
Int. J. Neonatal Screen. 2023, 9(4), 66; https://doi.org/10.3390/ijns9040066 - 4 Dec 2023
Cited by 4 | Viewed by 2012
Abstract
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 long [...] Read more.
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 long considered to be elevated in every TT1 patient, here we present a recent false-negative SA TT1 screen. A nine-year-old boy presented with HCC in a cirrhotic liver. Additional tests for the underlying cause unexpectedly revealed TT1. Nine years prior, the patient was screened for TT1 via SA NBS with a negative result: SA 1.08 µmol/L, NBS cut-off 1.20 µmol/L. To our knowledge, this report is the first to describe a false-negative result from the TT1 NBS using SA. False-negative TT1 NBS results may be caused by milder TT1 variants with lower SA excretion. Such patients are more likely to be missed in NBS programs and can be asymptomatic for years. Based on our case, we advise TT1 to be considered in patients with otherwise unexplained liver pathology, including fibrosis, cirrhosis and HCC, despite a previous negative TT1 NBS status. Moreover, because the NBS SA concentration of this patient fell below the Dutch cut-off value (1.20 µmol/L at that time), as well as below the range of cut-off values used in other countries (1.29–10 µmol/L), it is likely that false-negative screening results for TT1 may also be occurring internationally. This underscores the need to re-evaluate TT1 SA NBS programs. Full article
(This article belongs to the Special Issue Newborn Screening for Disorders of Amino Acid Metabolism)
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