International Survey on Phenylketonuria Newborn Screening
Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers...
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MDPI AG
2025-02-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/11/1/18 |
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| author | Domen Trampuž Peter C. J. I. Schielen Rolf H. Zetterström Maurizio Scarpa François Feillet Viktor Kožich Trine Tangeraas Ana Drole Torkar Matej Mlinarič Daša Perko Žiga Iztok Remec Barbka Repič Lampret Tadej Battelino ISNS Study Group on PKU Francjan J. van Spronsen James R. Bonham Urh Grošelj |
| author_facet | Domen Trampuž Peter C. J. I. Schielen Rolf H. Zetterström Maurizio Scarpa François Feillet Viktor Kožich Trine Tangeraas Ana Drole Torkar Matej Mlinarič Daša Perko Žiga Iztok Remec Barbka Repič Lampret Tadej Battelino ISNS Study Group on PKU Francjan J. van Spronsen James R. Bonham Urh Grošelj |
| author_sort | Domen Trampuž |
| collection | DOAJ |
| description | Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48–72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48–72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline. |
| format | Article |
| id | doaj-art-e93ab1d32f394627b0d34f4d99d83473 |
| institution | OA Journals |
| issn | 2409-515X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj-art-e93ab1d32f394627b0d34f4d99d834732025-08-20T02:11:05ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2025-02-011111810.3390/ijns11010018International Survey on Phenylketonuria Newborn ScreeningDomen Trampuž0Peter C. J. I. Schielen1Rolf H. Zetterström2Maurizio Scarpa3François Feillet4Viktor Kožich5Trine Tangeraas6Ana Drole Torkar7Matej Mlinarič8Daša Perko9Žiga Iztok Remec10Barbka Repič Lampret11Tadej Battelino12ISNS Study Group on PKUFrancjan J. van Spronsen13James R. Bonham14Urh Grošelj15Clinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, SloveniaInternational Society for Neonatal Screening, Reigerskamp 273, 3607 HP Stichtse Vecht, The NetherlandsCenter for Inherited Metabolic Diseases, Karolinska University Hospital, SE-171 76 Stockholm, SwedenRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, ItalyPediatric Unit, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, 54500 Nancy, FranceDepartment of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech RepublicNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, SloveniaDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, SloveniaClinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, SloveniaClinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, SloveniaClinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, Ljubljana University Medical Center, Vrazov trg 1, 1000 Ljubljana, SloveniaDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, SloveniaDivision of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, 9718 GZ Groningen, The NetherlandsSheffield Children’s (NHS) FT, Sheffield S10 2TH, UKDepartment of Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, Ljubljana University Medical Center, Bohoriceva 20, 1000 Ljubljana, SloveniaNewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48–72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48–72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline.https://www.mdpi.com/2409-515X/11/1/18phenylketonurianewbornneonatalscreeninginternationalsurvey |
| spellingShingle | Domen Trampuž Peter C. J. I. Schielen Rolf H. Zetterström Maurizio Scarpa François Feillet Viktor Kožich Trine Tangeraas Ana Drole Torkar Matej Mlinarič Daša Perko Žiga Iztok Remec Barbka Repič Lampret Tadej Battelino ISNS Study Group on PKU Francjan J. van Spronsen James R. Bonham Urh Grošelj International Survey on Phenylketonuria Newborn Screening International Journal of Neonatal Screening phenylketonuria newborn neonatal screening international survey |
| title | International Survey on Phenylketonuria Newborn Screening |
| title_full | International Survey on Phenylketonuria Newborn Screening |
| title_fullStr | International Survey on Phenylketonuria Newborn Screening |
| title_full_unstemmed | International Survey on Phenylketonuria Newborn Screening |
| title_short | International Survey on Phenylketonuria Newborn Screening |
| title_sort | international survey on phenylketonuria newborn screening |
| topic | phenylketonuria newborn neonatal screening international survey |
| url | https://www.mdpi.com/2409-515X/11/1/18 |
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