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Newborn screening for homocystinurias: Recent recommendations versus current practice

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Newborn screening for homocystinurias: Recent recommendations versus current practice. / Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J; Baumgartner, Matthias R; Bártl, Josef; Dionisi-Vici, Carlo; Gleich, Florian; Morris, Andrew A; Kožich, Viktor; Huemer, Martina; Barić, Ivo; Ben-Omran, Tawfeq; Blasco-Alonso, Javier; Bueno Delgado, Maria A; Carducci, Claudia; Cassanello, Michela; Cerone, Roberto; Couce, Maria Luz; Crushell, Ellen; Delgado Pecellin, Carmen; Dulin, Elena; Espada, Mercedes; Ferino, Giulio; Fingerhut, Ralph; Garcia Jimenez, Immaculada; Gonzalez Gallego, Immaculada; González-Irazabal, Yolanda; Gramer, Gwendolyn; Juan Fita, Maria Jesus; Karg, Eszter; Klein, Jeanette; Konstantopoulou, Vassiliki; la Marca, Giancarlo; Leão Teles, Elisa; Leuzzi, Vincenzo; Lilliu, Franco; Lopez, Rosa Maria; Lund, Allan M; Mayne, Philip; Meavilla, Silvia; Moat, Stuart J; Okun, Jürgen G; Pasquini, Elisabeta; Pedron-Giner, Consuélo Carmen; Racz, Gabor Zoltan; Ruiz Gomez, Maria Angeles; Vilarinho, Laura; Yahyaoui, Raquel; Zerjav Tansek, Moja; Zetterström, Rolf H; Zeyda, Maximilian; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD).

In: J INHERIT METAB DIS, Vol. 42, No. 1, 01.2019, p. 128-139.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Keller, R, Chrastina, P, Pavlíková, M, Gouveia, S, Ribes, A, Kölker, S, Blom, HJ, Baumgartner, MR, Bártl, J, Dionisi-Vici, C, Gleich, F, Morris, AA, Kožich, V, Huemer, M, Barić, I, Ben-Omran, T, Blasco-Alonso, J, Bueno Delgado, MA, Carducci, C, Cassanello, M, Cerone, R, Couce, ML, Crushell, E, Delgado Pecellin, C, Dulin, E, Espada, M, Ferino, G, Fingerhut, R, Garcia Jimenez, I, Gonzalez Gallego, I, González-Irazabal, Y, Gramer, G, Juan Fita, MJ, Karg, E, Klein, J, Konstantopoulou, V, la Marca, G, Leão Teles, E, Leuzzi, V, Lilliu, F, Lopez, RM, Lund, AM, Mayne, P, Meavilla, S, Moat, SJ, Okun, JG, Pasquini, E, Pedron-Giner, CC, Racz, GZ, Ruiz Gomez, MA, Vilarinho, L, Yahyaoui, R, Zerjav Tansek, M, Zetterström, RH, Zeyda, M & individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) 2019, 'Newborn screening for homocystinurias: Recent recommendations versus current practice', J INHERIT METAB DIS, vol. 42, no. 1, pp. 128-139. https://doi.org/10.1002/jimd.12034

APA

Keller, R., Chrastina, P., Pavlíková, M., Gouveia, S., Ribes, A., Kölker, S., Blom, H. J., Baumgartner, M. R., Bártl, J., Dionisi-Vici, C., Gleich, F., Morris, A. A., Kožich, V., Huemer, M., Barić, I., Ben-Omran, T., Blasco-Alonso, J., Bueno Delgado, M. A., Carducci, C., ... individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) (2019). Newborn screening for homocystinurias: Recent recommendations versus current practice. J INHERIT METAB DIS, 42(1), 128-139. https://doi.org/10.1002/jimd.12034

Vancouver

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S et al. Newborn screening for homocystinurias: Recent recommendations versus current practice. J INHERIT METAB DIS. 2019 Jan;42(1):128-139. https://doi.org/10.1002/jimd.12034

Bibtex

@article{85dbcb638bbd4809b2f5106240c7d4fb,
title = "Newborn screening for homocystinurias: Recent recommendations versus current practice",
abstract = "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.",
keywords = "Acetylcarnitine/metabolism, Amino Acid Metabolism, Inborn Errors/diagnosis, Carnitine/analogs & derivatives, Female, Glycine N-Methyltransferase/deficiency, Homocysteine/metabolism, Homocystinuria/diagnosis, Humans, Infant, Newborn, Male, Methionine/metabolism, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylmalonic Acid/metabolism, Muscle Spasticity/diagnosis, Neonatal Screening/methods, Phenylalanine/metabolism, Psychotic Disorders/diagnosis",
author = "Rebecca Keller and Petr Chrastina and Mark{\'e}ta Pavl{\'i}kov{\'a} and Sof{\'i}a Gouveia and Antonia Ribes and Stefan K{\"o}lker and Blom, {Henk J} and Baumgartner, {Matthias R} and Josef B{\'a}rtl and Carlo Dionisi-Vici and Florian Gleich and Morris, {Andrew A} and Viktor Ko{\v z}ich and Martina Huemer and Ivo Bari{\'c} and Tawfeq Ben-Omran and Javier Blasco-Alonso and {Bueno Delgado}, {Maria A} and Claudia Carducci and Michela Cassanello and Roberto Cerone and Couce, {Maria Luz} and Ellen Crushell and {Delgado Pecellin}, Carmen and Elena Dulin and Mercedes Espada and Giulio Ferino and Ralph Fingerhut and {Garcia Jimenez}, Immaculada and {Gonzalez Gallego}, Immaculada and Yolanda Gonz{\'a}lez-Irazabal and Gwendolyn Gramer and {Juan Fita}, {Maria Jesus} and Eszter Karg and Jeanette Klein and Vassiliki Konstantopoulou and {la Marca}, Giancarlo and {Le{\~a}o Teles}, Elisa and Vincenzo Leuzzi and Franco Lilliu and Lopez, {Rosa Maria} and Lund, {Allan M} and Philip Mayne and Silvia Meavilla and Moat, {Stuart J} and Okun, {J{\"u}rgen G} and Elisabeta Pasquini and Pedron-Giner, {Consu{\'e}lo Carmen} and Racz, {Gabor Zoltan} and {Ruiz Gomez}, {Maria Angeles} and Laura Vilarinho and Raquel Yahyaoui and {Zerjav Tansek}, Moja and Zetterstr{\"o}m, {Rolf H} and Maximilian Zeyda and {individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD)}",
note = "{\textcopyright} 2018 SSIEM.",
year = "2019",
month = jan,
doi = "10.1002/jimd.12034",
language = "English",
volume = "42",
pages = "128--139",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "1",

}

RIS

TY - JOUR

T1 - Newborn screening for homocystinurias: Recent recommendations versus current practice

AU - Keller, Rebecca

AU - Chrastina, Petr

AU - Pavlíková, Markéta

AU - Gouveia, Sofía

AU - Ribes, Antonia

AU - Kölker, Stefan

AU - Blom, Henk J

AU - Baumgartner, Matthias R

AU - Bártl, Josef

AU - Dionisi-Vici, Carlo

AU - Gleich, Florian

AU - Morris, Andrew A

AU - Kožich, Viktor

AU - Huemer, Martina

AU - Barić, Ivo

AU - Ben-Omran, Tawfeq

AU - Blasco-Alonso, Javier

AU - Bueno Delgado, Maria A

AU - Carducci, Claudia

AU - Cassanello, Michela

AU - Cerone, Roberto

AU - Couce, Maria Luz

AU - Crushell, Ellen

AU - Delgado Pecellin, Carmen

AU - Dulin, Elena

AU - Espada, Mercedes

AU - Ferino, Giulio

AU - Fingerhut, Ralph

AU - Garcia Jimenez, Immaculada

AU - Gonzalez Gallego, Immaculada

AU - González-Irazabal, Yolanda

AU - Gramer, Gwendolyn

AU - Juan Fita, Maria Jesus

AU - Karg, Eszter

AU - Klein, Jeanette

AU - Konstantopoulou, Vassiliki

AU - la Marca, Giancarlo

AU - Leão Teles, Elisa

AU - Leuzzi, Vincenzo

AU - Lilliu, Franco

AU - Lopez, Rosa Maria

AU - Lund, Allan M

AU - Mayne, Philip

AU - Meavilla, Silvia

AU - Moat, Stuart J

AU - Okun, Jürgen G

AU - Pasquini, Elisabeta

AU - Pedron-Giner, Consuélo Carmen

AU - Racz, Gabor Zoltan

AU - Ruiz Gomez, Maria Angeles

AU - Vilarinho, Laura

AU - Yahyaoui, Raquel

AU - Zerjav Tansek, Moja

AU - Zetterström, Rolf H

AU - Zeyda, Maximilian

AU - individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD)

N1 - © 2018 SSIEM.

PY - 2019/1

Y1 - 2019/1

N2 - 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.

AB - 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.

KW - Acetylcarnitine/metabolism

KW - Amino Acid Metabolism, Inborn Errors/diagnosis

KW - Carnitine/analogs & derivatives

KW - Female

KW - Glycine N-Methyltransferase/deficiency

KW - Homocysteine/metabolism

KW - Homocystinuria/diagnosis

KW - Humans

KW - Infant, Newborn

KW - Male

KW - Methionine/metabolism

KW - Methylenetetrahydrofolate Reductase (NADPH2)/deficiency

KW - Methylmalonic Acid/metabolism

KW - Muscle Spasticity/diagnosis

KW - Neonatal Screening/methods

KW - Phenylalanine/metabolism

KW - Psychotic Disorders/diagnosis

U2 - 10.1002/jimd.12034

DO - 10.1002/jimd.12034

M3 - SCORING: Journal article

C2 - 30740731

VL - 42

SP - 128

EP - 139

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 1

ER -