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Newborn screening for homocystinurias: Recent recommendations versus current practice

2019-01Journal article Open access
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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.accessioned2020-05-09T16:27:29Z
dc.date.available2020-05-09T16:27:29Z
dc.date.issued2019-01
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.sponsorshipThis publication arises from the E-HOD project (Chafea grant no. December 2, 2012), which has received funding from the European Union, in the framework of the Health Programme. Many programmes cooperate closely with Piero Rinaldo and coworkers (Mayo Clinic, Rochester, Minnesota, USA) and wish to acknowledge the ongoing support provided by the R4S and CLIR initiatives (http://clir.mayo.edu).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Inherit Metab Dis 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034.pt_PT
dc.identifier.doi10.1002/jimd.12034pt_PT
dc.identifier.issn0141-8955
dc.identifier.urihttp://hdl.handle.net/10400.18/6640
dc.language.isoengpt_PT
dc.peerreviewedyespt_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.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAcetylcarnitinept_PT
dc.subjectAmino Acid Metabolism, Inborn Errorspt_PT
dc.subjectCarnitinept_PT
dc.subjectFemalept_PT
dc.subjectGlycine N-Methyltransferasept_PT
dc.subjectHomocysteinept_PT
dc.subjectHomocystinuriapt_PT
dc.subjectHumanspt_PT
dc.subjectInfant, Newbornpt_PT
dc.subjectMalept_PT
dc.subjectMethioninept_PT
dc.subjectMethylenetetrahydrofolate Reductase (NADPH2)pt_PT
dc.subjectMethylmalonic Acidpt_PT
dc.subjectMuscle Spasticitypt_PT
dc.subjectNeonatal Screeningpt_PT
dc.subjectPhenylalaninept_PT
dc.subjectPsychotic Disorderspt_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.embargofctDe acordo com o editor online da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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