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    Journal of inherited metabolic disease. doi: 10.1002/jimd.12034
    Newborn screening for homocystinurias: Recent recommendations versus current practice.
    Keller R1,  Chrastina P2,  Pavlíková M3,  Gouveia S4,  Ribes A5,  Kölker S6,  Blom HJ7,  Baumgartner MR8,  Bártl J9,  Dionisi-Vici C10,  Gleich F11,  Morris AA12,  Kožich V13,  Huemer M14,  Barić I15,  Ben-Omran T16,  Blasco-Alonso J17,  Bueno Delgado MA18,  Carducci C19,  Cassanello M20,  Cerone R21,  Couce ML22,  Crushell E23,  Delgado Pecellin C24,  Dulin E25,  Espada M26,  Ferino G27,  Fingerhut R28,  Garcia Jimenez I29,  Gonzalez Gallego I30,  González-Irazabal Y31,  Gramer G32,  Juan Fita MJ33,  Karg E34,  Klein J35,  Konstantopoulou V36,  la Marca G37,  Leão Teles E38,  Leuzzi V39,  Lilliu F40,  Lopez RM41,  Lund AM42,  Mayne P43,  Meavilla S44,  Moat SJ45,  Okun JG46,  Pasquini E47,  Pedron-Giner CC48,  Racz GZ49,  Ruiz Gomez MA50,  Vilarinho L51,  Yahyaoui R52,  Zerjav Tansek M53,  Zetterström RH54,  Zeyda M55
    Author information
    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.


    © 2018 SSIEM.

    Publikations ID: 30740731
    Quelle: öffnen
     
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