Repository logo
 
Publication

Newborn screening for homocystinurias: recent recommendations versus current practice

2018-06-15Journal article Restricted access
Simple item page
dc.contributor.authorKeller, Rebecca
dc.contributor.authorChrastina, Petr
dc.contributor.authorPavlíková, Markéta
dc.contributor.authorGouveia, Sofía
dc.contributor.authorRibes, Antonia
dc.contributor.authorKölker, Stefan
dc.contributor.authorBlom, Henk J.
dc.contributor.authorBaumgartner, Matthias R.
dc.contributor.authorBártl, Josef
dc.contributor.authorDionisi-Vici, Carlo
dc.contributor.authorGleich, Florian
dc.contributor.authorMorris, Andrew A.
dc.contributor.authorKožich, Viktor
dc.contributor.authorHuemer, Martina
dc.contributor.authorBarić, Ivo
dc.contributor.authorBen-Omran, Tawfeq
dc.contributor.authorBlasco-Alonso, Javier
dc.contributor.authorBueno Delgado, Maria A.
dc.contributor.authorCarducci, Claudia
dc.contributor.authorCassanello, Michela
dc.contributor.authorCerone, Roberto
dc.contributor.authorCouce, Maria Luz
dc.contributor.authorCrushell, Ellen
dc.contributor.authorDelgado Pecellin, Carmen
dc.contributor.authorDulin, Elena
dc.contributor.authorEspada, Mercedes
dc.contributor.authorFerino, Giulio
dc.contributor.authorFingerhut, Ralph
dc.contributor.authorGarcia Jimenez, Immaculada
dc.contributor.authorGonzalez Gallego, Immaculada
dc.contributor.authorGonzález-Irazabal, Yolanda
dc.contributor.authorGramer, Gwendolyn
dc.contributor.authorJuan Fita, Maria Jesus
dc.contributor.authorKarg, Eszter
dc.contributor.authorKlein, Jeanette
dc.contributor.authorKonstantopoulou, Vassiliki
dc.contributor.authorla Marca, Giancarlo
dc.contributor.authorLeão Teles, Elisa
dc.contributor.authorLeuzzi, Vincenzo
dc.contributor.authorLilliu, Franco
dc.contributor.authorLopez, Rosa Maria
dc.contributor.authorLund, Allan M.
dc.contributor.authorMayne, Philip
dc.contributor.authorMeavilla, Silvia
dc.contributor.authorMoat, Stuart J.
dc.contributor.authorOkun, Jürgen G.
dc.contributor.authorPasquini, Elisabeta
dc.contributor.authorPedron-Giner, Consuélo Carmen
dc.contributor.authorRacz, Gabor Zoltan
dc.contributor.authorRuiz Gomez, Maria Angeles
dc.contributor.authorVilarinho, Laura
dc.contributor.authorYahyaoui, Raquel
dc.contributor.authorZerjav Tansek, Moja
dc.contributor.authorZetterström, Rolf H.
dc.contributor.authorZeyda, Maximilian
dc.date.accessioned2019-03-22T12:17:15Z
dc.date.available2019-03-22T12:17:15Z
dc.date.issued2018-06-15
dc.description.abstractPurpose: 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.pt_PT
dc.description.sponsorshipFunding information: Mayo Clinic; Charles University; Ministry of Health of the Czech Republic Communicated by: Piero Rinaldopt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Inherit Metab Dis. 2019 Feb 11;42(1):128-139. doi: 10.1002/jimd.12034. Epub 2018 Jun 15pt_PT
dc.identifier.doi10.1002/jimd.12034pt_PT
dc.identifier.issn0141-8955
dc.identifier.urihttp://hdl.handle.net/10400.18/6274
dc.language.isoengpt_PT
dc.publisherWiley/ Society for the Study of Inborn Errors of Metabolismpt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12034pt_PT
dc.subjectHomocystinuriaspt_PT
dc.subjectNewborn Screeningpt_PT
dc.subjectPublished Recommendationspt_PT
dc.subjectClinical Practicept_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleNewborn screening for homocystinurias: recent recommendations versus current practicept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage139pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage128pt_PT
oaire.citation.titleJournal of Inherited Metabolic Diseasept_PT
oaire.citation.volume42pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
Keller_et_al-2019-Journal_of_Inherited_Metabolic_Disease.pdf
Size:
1.64 MB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DGH - Artigos em revistas internacionais