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Newborn screening for homocystinurias: Recent recommendations versus current practice
R. Keller, P. Chrastina, M. Pavlíková, S. Gouveia, A. Ribes, S. Kölker, HJ. Blom, MR. Baumgartner, J. Bártl, C. Dionisi-Vici, F. Gleich, AA. Morris, V. Kožich, M. Huemer, individual contributors of the European Network and Registry for...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
30740731
DOI
10.1002/jimd.12034
Knihovny.cz E-zdroje
- MeSH
- acylkarnitin metabolismus MeSH
- fenylalanin metabolismus MeSH
- glycin-N-methyltransferasa nedostatek metabolismus MeSH
- homocystein metabolismus MeSH
- homocystinurie diagnóza metabolismus MeSH
- karnitin analogy a deriváty metabolismus MeSH
- kyselina methylmalonová metabolismus MeSH
- lidé MeSH
- methionin metabolismus MeSH
- methylentetrahydrofolátreduktasa (NADPH2) nedostatek metabolismus MeSH
- novorozenec MeSH
- novorozenecký screening metody MeSH
- psychotické poruchy diagnóza metabolismus MeSH
- svalová spasticita diagnóza metabolismus MeSH
- vrozené poruchy metabolismu aminokyselin diagnóza metabolismus MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PURPOSE: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. METHODS: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. RESULTS: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. CONCLUSIONS: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.
Clinical and Metabolic Genetics Department of Pediatrics Hamad Medical Corporation Doha Qatar
Clinical Chemistry Unit Public Health Laboratory of Bilbao Euskadi Spain
Department of Experimental Medicine Sapienza University of Rome Rome Italy
Department of Human Neuroscience Sapienza University of Rome Rome Italy
Department of Internal Medicine VU Medical Center Amsterdam The Netherlands
Department of Pediatrics University of Szeged Szeged Hungary
Division of Gastroenterology and Nutrition Hospital Infantil Universitario Niño Jesús Madrid Spain
Division of Metabolism Bambino Gesù Children's Research Hospital Rome Italy
Gastroenterology and Nutrition Unit Hospital Regional Universitario de Málaga Málaga Spain
Hospital Gregorio Marañon Madrid Spain
Laboratory for the Study of Inborn Errors of Metabolism Istituto Giannina Gaslini Genoa Italy
Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Trust Manchester UK
Metabolic Unit Department of Pediatrics San Joao Hospital Porto Portugal
Newborn Screening Laboratory Charité University Medicine Berlin Berlin Germany
Newborn Screening Metabolism and Genetics Unit National Institute of Health Porto Portugal
Regional Center for Newborn Screening Pediatric Hospital A Cao AOB Brotzu Cagliari Italy
School of Medicine University Hospital Centre Zagreb and University of Zagreb Zagreb Croatia
Sección Metabolopatías Centro de Bioquímica y Genetica Hospital Virgen de la Arrixaca Murcia Spain
Unidad de Metabolismo Hospital Infantil Miguel Servet Zaragoza Spain
Citace poskytuje Crossref.org
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- $a Keller, Rebecca $u Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zürich, Switzerland.
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- $a Newborn screening for homocystinurias: Recent recommendations versus current practice / $c R. Keller, P. Chrastina, M. Pavlíková, S. Gouveia, A. Ribes, S. Kölker, HJ. Blom, MR. Baumgartner, J. Bártl, C. Dionisi-Vici, F. Gleich, AA. Morris, V. Kožich, M. Huemer, individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), I. Barić, T. Ben-Omran, J. Blasco-Alonso, MA. Bueno Delgado, C. Carducci, M. Cassanello, R. Cerone, ML. Couce, E. Crushell, C. Delgado Pecellin, E. Dulin, M. Espada, G. Ferino, R. Fingerhut, I. Garcia Jimenez, I. Gonzalez Gallego, Y. González-Irazabal, G. Gramer, MJ. Juan Fita, E. Karg, J. Klein, V. Konstantopoulou, G. la Marca, E. Leão Teles, V. Leuzzi, F. Lilliu, RM. Lopez, AM. Lund, P. Mayne, S. Meavilla, SJ. Moat, JG. Okun, E. Pasquini, CC. Pedron-Giner, GZ. Racz, MA. Ruiz Gomez, L. Vilarinho, R. Yahyaoui, M. Zerjav Tansek, RH. Zetterström, M. Zeyda,
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- $a PURPOSE: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. METHODS: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. RESULTS: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. CONCLUSIONS: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.
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